Datasets:
wanglab
/
variant_effect_non_snv

Dataset card Data Studio Files
xet
Community
question
stringlengths
84
268
answer
stringlengths
6
879
reference_sequence
stringlengths
4.1k
4.1k
mutated_sequence
stringlengths
4.1k
4.1k
cleaned_pathogenicity
stringclasses
2 values
__index_level_0__
int64
67
343k
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43074350—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome']
TCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTG
TCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACT
pathogenic
272,842
Is the genetic mutation found on chromosome 17 at position 43074351, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Inherited_ovarian_cancer_(without_breast_cancer)']
CGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGG
CGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGN
pathogenic
272,843
Classify the chromosome 17 variant at position 43074355 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
CGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAA
CGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGAGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAN
pathogenic
272,845
Variant chromosome 17, position 43074359, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome']
CCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTA
CCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAG
pathogenic
272,848
Mutation at chromosome 17, position 43074373, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATT
GTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTNNNNNNNNNN
pathogenic
272,853
Regarding the variant found on chromosome 17 at position 43074374 in gene BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
TTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTA
TTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAN
pathogenic
272,854
Determine whether the variant at chromosome 17, position 43074379, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_4']
CTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAAT
CTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATNN
pathogenic
272,856
Classify the chromosome 17 variant at position 43074382 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome']
AGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAG
AGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGNN
pathogenic
272,858
Evaluate the clinical significance of the mutation at chromosome 17, position 43074385 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
CGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGT
CGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTTTTCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTN
pathogenic
272,860
Benign or pathogenic: chromosome 17, position 43074389, gene BRCA1 (BRCA1 DNA repair associated) variant? Disease(s) if pathogenic?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAA
ATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCA
pathogenic
272,863
Located at chromosome 17 position 43074393, the variant affecting gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATA
CGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTCGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATAT
pathogenic
272,866
Mutation found at chromosome 17 position 43074394, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAA
GCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGCTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATA
pathogenic
272,868
Does the genetic variant at chromosome 17, position 43074395, impacting gene BRCA1 (BRCA1 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAA
CCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTGGTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATA
pathogenic
272,869
Regarding the variant at chromosome 17 and position 43074396, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
CATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAAT
CATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGGGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAA
pathogenic
272,870
Evaluate this variant at chromosome 17, position 43074409, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGAT
CCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAGAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAG
pathogenic
272,877
Chromosome 17, position 43074410, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATA
CTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAAGACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGA
pathogenic
272,878
Is the genetic change at chromosome 17, position 43074412, within gene BRCA1 (BRCA1 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
GGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACC
GGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATAC
pathogenic
272,880
Variant on chromosome 17, at position 43074414, affecting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
GCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCAC
GCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACN
pathogenic
272,881
A mutation at chromosome position 43074415 on chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACA
CAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACANNNN
pathogenic
272,882
Clinically, how would you classify the variant at chromosome 17, position 43074420, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
AGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATC
AGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCNNNNNNNNNNN
pathogenic
272,883
Evaluate this variant at chromosome 17, position 43074430, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['BRCA1-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGA
TCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGANN
pathogenic
272,887
Is the genetic variant on chromosome 17, position 43074433, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
GTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGT
GTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTNNNN
pathogenic
272,889
For chromosome 17, position 43074434, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTT
TCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGGGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATG
pathogenic
272,890
Variant on chromosome 17, at position 43074435, affecting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTT
CTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGTGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTN
pathogenic
272,891
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43074436: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTC
TCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGAGGTGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTT
pathogenic
272,892
Variant at chromosome 17, position 43074470, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast']
AGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTG
AGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAAGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGNN
pathogenic
272,905
A mutation at chromosome position 43074471 on chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGG
GAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGN
pathogenic
272,907
Mutation at chromosome 17, position 43074471, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['BRCA1-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm']
GAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGG
GAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGNN
pathogenic
272,908
Is the genetic mutation found on chromosome 17 at position 43074473, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
AGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTA
AGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGT
pathogenic
272,910
Does the variant on chromosome 17 at location 43074477 affecting gene BRCA1 (BRCA1 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAAC
TCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCAGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACN
pathogenic
272,911
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43074480—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTAT
CGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGCTCATCTAATGATGGGCAACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTT
pathogenic
272,914
Clinical classification of chromosome 17, position 43074481, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome']
GGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATC
GGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCN
pathogenic
272,915
For chromosome 17, position 43074489, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACA
ATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACAN
pathogenic
272,921
Chromosome 17, position 43074490, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACAC
TCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCTCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACN
pathogenic
272,922
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome 17, position 43074494—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
GGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCA
GGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTTGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCANNNNN
pathogenic
272,925
Regarding the variant at chromosome 17 and position 43074512, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast']
CAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGG
CAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGN
pathogenic
272,932
Variant chromosome 17, position 43074719, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)?
benign
TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAA
TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAANNNNN
benign
272,945
Variant on chromosome 17, at position 43074920, affecting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
benign
CTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATG
CTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGNNNNNNNNNNNNNN
benign
272,947
Is the variant located on chromosome 17 at position 43075066, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked.
benign
TCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTG
TCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATG
benign
272,948
Regarding the variant at chromosome 17 and position 43076486, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
GGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCAT
GGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATN
pathogenic
272,955
A genetic variant at chromosome 17, position 43076488, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTA
GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAN
pathogenic
272,961
Regarding the variant found on chromosome 17 at position 43076488 in gene BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome']
GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTA
GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTANN
pathogenic
272,962
Is the genetic change at chromosome 17, position 43076497, within gene BRCA1 (BRCA1 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
ATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCAC
ATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACNNNNNNNNNNNNNNNNNNNNNN
pathogenic
272,965
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43076504, gene BRCA1 (BRCA1 DNA repair associated). What disease(s) is it linked to if pathogenic?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGAC
AGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGA
pathogenic
272,968
Assess the variant on chromosome 17, position 43076504, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGAC
AGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTG
pathogenic
272,969
Determine if the mutation at chromosome 17, position 43076508 in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTA
TCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGT
pathogenic
272,970
Considering the variant on chromosome 17, location 43076514, involving gene BRCA1 (BRCA1 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
AGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCAT
AGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTATGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATN
pathogenic
272,971
Mutation at chromosome 17, position 43076515, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
GCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATT
GCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTN
pathogenic
272,972
Is the genetic mutation found on chromosome 17 at position 43076516, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast']
CAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTT
CAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTNNNN
pathogenic
272,973
The chromosome 17, position 43076521 genetic variant in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
GTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGC
GTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTT
pathogenic
272,975
Does the chromosome 17 mutation at position 43076524 within gene BRCA1 (BRCA1 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast']
CATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTT
CATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTN
pathogenic
272,976
Does the chromosome 17 mutation at position 43076536 within gene BRCA1 (BRCA1 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
ATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGC
ATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCN
pathogenic
272,978
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43076544—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
ATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCC
ATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGC
pathogenic
272,980
Considering the genetic mutation at chromosome 17, position 43076554, impacting BRCA1 (BRCA1 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
TTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAG
TTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGN
pathogenic
272,985
Evaluate if the mutation on chromosome 17 at position 43076554 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
TTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAG
TTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAAAAGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGNNNNNNNNNNNNNNNN
pathogenic
272,986
Clinical significance of chromosome 17, position 43076555, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGG
TTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGCAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGN
pathogenic
272,987
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43076557—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTA
AGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAN
pathogenic
272,990
Evaluate the clinical significance of the mutation at chromosome 17, position 43076559 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
AAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGA
AAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAN
pathogenic
272,992
Determine whether the variant at chromosome 17, position 43076561, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAA
GGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAA
pathogenic
272,993
For chromosome 17, position 43076569, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAAC
CCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGAAAGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACNNNNNNNNNNN
pathogenic
272,995
Does the chromosome 17 mutation at position 43076570 within gene BRCA1 (BRCA1 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACA
CTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAN
pathogenic
272,997
Evaluate this variant at chromosome 17, position 43076573, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
GAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAA
GAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGTGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAA
pathogenic
273,000
Assess the variant on chromosome 17, position 43076574, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
AAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAG
AAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGTCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAA
pathogenic
273,001
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43076575 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGA
AAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAG
pathogenic
273,002
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43076577, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
GATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATT
GATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTAATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGAT
pathogenic
273,003
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43076578—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
ATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTG
ATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTAAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGN
pathogenic
273,004
A genetic alteration at chromosome 17, position 43076579, in gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGT
TAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGA
pathogenic
273,005
Chromosome 17, position 43076579, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGT
TAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTN
pathogenic
273,006
Variant at chromosome position 43076579, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGT
TAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTAAAGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTN
pathogenic
273,007
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome 17, position 43076580—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast']
AAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTA
AAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGT
pathogenic
273,008
For chromosome 17, position 43076580, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTA
AAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTAN
pathogenic
273,010
Clinical significance of chromosome 17, position 43076582, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
ATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATT
ATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTNNNNNNNNNNNNNNNNN
pathogenic
273,011
Chromosome 17, position 43076583, gene BRCA1 (BRCA1 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTA
TGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGAT
pathogenic
273,014
Variant at chromosome 17, position 43076584, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAA
GGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTTTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAAN
pathogenic
273,016
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43076585—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAAT
GAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAA
pathogenic
273,017
Mutation found at chromosome 17 position 43076592, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAATTAAACTG
AAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTATTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAATTAAACTGN
pathogenic
273,019
Variant at chromosome position 43076598, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast']
ATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAATTAAACTGTTTTTT
ATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAATTAAACTGTTTTTTNN
pathogenic
273,021
Assess the variant on chromosome 17, position 43077335, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
benign
AATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAATTAAACTGTTTTTTTAAGACACTGGGTAGCCTGGGGGGAAATAATCATTGATTTCCTGAGTTAGTCTTCAAATGCATTATTTATAGTTTCCTTTATGCTTGTCTTTTCTGGACCTGTGAGTTTCTAGGATTGTTAAGAACTCTGTTGAAAGTAAGTAGGATCTAACTATGAAGAGAGGTATCATCCTCCCCACCCCCAATACAGGGTGATAATTGATAAAGGGTAATGTGCAAGTTCCAAGGAACCATATCAAACGGAATTAACCATTGGAAAGAGTTAAAAAAGTGGCCAGGTGATGTGGCTCACGCCTACAATCCCAGCACTTTGAGAGGCCGAGGTGGACAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCGGACATTGTAATGAGCCGAAATCACACCATTGCACTCCAGCCTGGGCAACAAAAGTGAAACTTCATCTCAAACAAAAACAAAACAAAACAAAACAAAAAAAATGAAAGGCAGAGGGAAGGCTCAGATACAAACACAGCTATTAAAAAGTCATTCCTCCTTTTGGCCAGAACCACCATCTTTCAGTAATTTGCCAAAATGACGAACACAAAGGGAAAGAGGAGAGGCACCTGATATATGTTCTCTAGGCCTTTTAGAAAACATGGAGTTGTTCCTTTG
AATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAATTAAACTGTTTTTTTAAGACACTGGGTAGCCTGGGGGGAAATAATCATTGATTTCCTGAGTTAGTCTTCAAATGCATTATTTATAGTTTCCTTTATGCTTGTCTTTTCTGGACCTGTGAGTTTCTAGGATTGTTAAGAACTCTGTTGAAAGTAAGTAGGATCTAACTATGAAGAGAGGTATCATCCTCCCCACCCCCAATACAGGGTGATAATTGATAAAGGGTAATGTGCAAGTTCCAAGGAACCATATCAAACGGAATTAACCATTGGAAAGAGTTAAAAAAGTGGCCAGGTGATGTGGCTCACGCCTACAATCCCAGCACTTTGAGAGGCCGAGGTGGACAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCGGACATTGTAATGAGCCGAAATCACACCATTGCACTCCAGCCTGGGCAACAAAAGTGAAACTTCATCTCAAACAAAAACAAAACAAAACAAAACAAAAAAAATGAAAGGCAGAGGGAAGGCTCAGATACAAACACAGCTATTAAAAAGTCATTCCTCCTTTTGGCCAGAACCACCATCTTTCAGTAATTTGCCAAAATGACGAACACAAAGGGAAAGAGGAGAGGCACCTGATATATGTTCTCTAGGCCTTTTAGAAAACATGGAGTTGTTCCTTT
benign
273,034
A genetic variant at chromosome 17, position 43077743, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
benign
TGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAATTAAACTGTTTTTTTAAGACACTGGGTAGCCTGGGGGGAAATAATCATTGATTTCCTGAGTTAGTCTTCAAATGCATTATTTATAGTTTCCTTTATGCTTGTCTTTTCTGGACCTGTGAGTTTCTAGGATTGTTAAGAACTCTGTTGAAAGTAAGTAGGATCTAACTATGAAGAGAGGTATCATCCTCCCCACCCCCAATACAGGGTGATAATTGATAAAGGGTAATGTGCAAGTTCCAAGGAACCATATCAAACGGAATTAACCATTGGAAAGAGTTAAAAAAGTGGCCAGGTGATGTGGCTCACGCCTACAATCCCAGCACTTTGAGAGGCCGAGGTGGACAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCGGACATTGTAATGAGCCGAAATCACACCATTGCACTCCAGCCTGGGCAACAAAAGTGAAACTTCATCTCAAACAAAAACAAAACAAAACAAAACAAAAAAAATGAAAGGCAGAGGGAAGGCTCAGATACAAACACAGCTATTAAAAAGTCATTCCTCCTTTTGGCCAGAACCACCATCTTTCAGTAATTTGCCAAAATGACGAACACAAAGGGAAAGAGGAGAGGCACCTGATATATGTTCTCTAGGCCTTTTAGAAAACATGGAGTTGTTCCTTTGGCCATGTATATGCGAATCTGTAAGAAAGGTGAAATTGTAGACATCAAGGGAACGGGTACTGTTCAAAAAGGAATGCCCCACAAGTGTTACCATGGCAAAACTGGAAAAGTCTACAACGTGACCCAGCATGCTGTTGGCATCGCTGTAAACAAGTTAAGGGCAAGATTCTTGCCAAGAGAATTAATGTGCGTATTGAGCACATTAAACACTCTAAGAGCCAAGACAGCTTCCTGAAACGCGTGAAGGAAAATGATCAGAAAAAGAAAGAAGCCAAAGAGAAAGGTACGTGGGTTCAACTGAAGCACCAGCCTGCTCCACCCAGAGAAGCACACTTTGTGAGAACCAATGGGAAGGAGCCTGAGCAGCTGGAACCTATTCCCTATGAATTCATGGCATAATAGGTGTTAA
TGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAATTAAACTGTTTTTTTAAGACACTGGGTAGCCTGGGGGGAAATAATCATTGATTTCCTGAGTTAGTCTTCAAATGCATTATTTATAGTTTCCTTTATGCTTGTCTTTTCTGGACCTGTGAGTTTCTAGGATTGTTAAGAACTCTGTTGAAAGTAAGTAGGATCTAACTATGAAGAGAGGTATCATCCTCCCCACCCCCAATACAGGGTGATAATTGATAAAGGGTAATGTGCAAGTTCCAAGGAACCATATCAAACGGAATTAACCATTGGAAAGAGTTAAAAAAGTGGCCAGGTGATGTGGCTCACGCCTACAATCCCAGCACTTTGAGAGGCCGAGGTGGACAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCGGACATTGTAATGAGCCGAAATCACACCATTGCACTCCAGCCTGGGCAACAAAAGTGAAACTTCATCTCAAACAAAAACAAAACAAAACAAAACAAAAAAAATGAAAGGCAGAGGGAAGGCTCAGATACAAACACAGCTATTAAAAAGTCATTCCTCCTTTTGGCCAGAACCACCATCTTTCAGTAATTTGCCAAAATGACGAACACAAAGGGAAAGAGGAGAGGCACCTGATATATGTTCTCTAGGCCTTTTAGAAAACATGGAGTTGTTCCTTTGGCCATGTATATGCGAATCTGTAAGAAAGGTGAAATTGTAGACATCAAGGGAACGGGTACTGTTCAAAAAGGAATGCCCCACAAGTGTTACCATGGCAAAACTGGAAAAGTCTACAACGTGACCCAGCATGCTGTTGGCATCGCTGTAAACAAGTTAAGGGCAAGATTCTTGCCAAGAGAATTAATGTGCGTATTGAGCACATTAAACACTCTAAGAGCCAAGACAGCTTCCTGAAACGCGTGAAGGAAAATGATCAGAAAAAGAAAGAAGCCAAAGAGAAAGGTACGTGGGTTCAACTGAAGCACCAGCCTGCTCCACCCAGAGAAGCACACTTTGTGAGAACCAATGGGAAGGAGCCTGAGCAGCTGGAACCTATTCCCTATGAATTCATGGCATAATAGGTGTTAAN
benign
273,036
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43077760—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
benign
GCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAATTAAACTGTTTTTTTAAGACACTGGGTAGCCTGGGGGGAAATAATCATTGATTTCCTGAGTTAGTCTTCAAATGCATTATTTATAGTTTCCTTTATGCTTGTCTTTTCTGGACCTGTGAGTTTCTAGGATTGTTAAGAACTCTGTTGAAAGTAAGTAGGATCTAACTATGAAGAGAGGTATCATCCTCCCCACCCCCAATACAGGGTGATAATTGATAAAGGGTAATGTGCAAGTTCCAAGGAACCATATCAAACGGAATTAACCATTGGAAAGAGTTAAAAAAGTGGCCAGGTGATGTGGCTCACGCCTACAATCCCAGCACTTTGAGAGGCCGAGGTGGACAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCGGACATTGTAATGAGCCGAAATCACACCATTGCACTCCAGCCTGGGCAACAAAAGTGAAACTTCATCTCAAACAAAAACAAAACAAAACAAAACAAAAAAAATGAAAGGCAGAGGGAAGGCTCAGATACAAACACAGCTATTAAAAAGTCATTCCTCCTTTTGGCCAGAACCACCATCTTTCAGTAATTTGCCAAAATGACGAACACAAAGGGAAAGAGGAGAGGCACCTGATATATGTTCTCTAGGCCTTTTAGAAAACATGGAGTTGTTCCTTTGGCCATGTATATGCGAATCTGTAAGAAAGGTGAAATTGTAGACATCAAGGGAACGGGTACTGTTCAAAAAGGAATGCCCCACAAGTGTTACCATGGCAAAACTGGAAAAGTCTACAACGTGACCCAGCATGCTGTTGGCATCGCTGTAAACAAGTTAAGGGCAAGATTCTTGCCAAGAGAATTAATGTGCGTATTGAGCACATTAAACACTCTAAGAGCCAAGACAGCTTCCTGAAACGCGTGAAGGAAAATGATCAGAAAAAGAAAGAAGCCAAAGAGAAAGGTACGTGGGTTCAACTGAAGCACCAGCCTGCTCCACCCAGAGAAGCACACTTTGTGAGAACCAATGGGAAGGAGCCTGAGCAGCTGGAACCTATTCCCTATGAATTCATGGCATAATAGGTGTTAAAAAAAAAAAAAAAAGAC
GCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAATTAAACTGTTTTTTTAAGACACTGGGTAGCCTGGGGGGAAATAATCATTGATTTCCTGAGTTAGTCTTCAAATGCATTATTTATAGTTTCCTTTATGCTTGTCTTTTCTGGACCTGTGAGTTTCTAGGATTGTTAAGAACTCTGTTGAAAGTAAGTAGGATCTAACTATGAAGAGAGGTATCATCCTCCCCACCCCCAATACAGGGTGATAATTGATAAAGGGTAATGTGCAAGTTCCAAGGAACCATATCAAACGGAATTAACCATTGGAAAGAGTTAAAAAAGTGGCCAGGTGATGTGGCTCACGCCTACAATCCCAGCACTTTGAGAGGCCGAGGTGGACAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCGGACATTGTAATGAGCCGAAATCACACCATTGCACTCCAGCCTGGGCAACAAAAGTGAAACTTCATCTCAAACAAAAACAAAACAAAACAAAACAAAAAAAATGAAAGGCAGAGGGAAGGCTCAGATACAAACACAGCTATTAAAAAGTCATTCCTCCTTTTGGCCAGAACCACCATCTTTCAGTAATTTGCCAAAATGACGAACACAAAGGGAAAGAGGAGAGGCACCTGATATATGTTCTCTAGGCCTTTTAGAAAACATGGAGTTGTTCCTTTGGCCATGTATATGCGAATCTGTAAGAAAGGTGAAATTGTAGACATCAAGGGAACGGGTACTGTTCAAAAAGGAATGCCCCACAAGTGTTACCATGGCAAAACTGGAAAAGTCTACAACGTGACCCAGCATGCTGTTGGCATCGCTGTAAACAAGTTAAGGGCAAGATTCTTGCCAAGAGAATTAATGTGCGTATTGAGCACATTAAACACTCTAAGAGCCAAGACAGCTTCCTGAAACGCGTGAAGGAAAATGATCAGAAAAAGAAAGAAGCCAAAGAGAAAGGTACGTGGGTTCAACTGAAGCACCAGCCTGCTCCACCCAGAGAAGCACACTTTGTGAGAACCAATGGGAAGGAGCCTGAGCAGCTGGAACCTATTCCCTATGAATTCATGGCATAATAGGTGTTAAAAAAAAAAAAAAAAGA
benign
273,039
A genetic variant at chromosome 17, position 43078088, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
benign
CCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAATTAAACTGTTTTTTTAAGACACTGGGTAGCCTGGGGGGAAATAATCATTGATTTCCTGAGTTAGTCTTCAAATGCATTATTTATAGTTTCCTTTATGCTTGTCTTTTCTGGACCTGTGAGTTTCTAGGATTGTTAAGAACTCTGTTGAAAGTAAGTAGGATCTAACTATGAAGAGAGGTATCATCCTCCCCACCCCCAATACAGGGTGATAATTGATAAAGGGTAATGTGCAAGTTCCAAGGAACCATATCAAACGGAATTAACCATTGGAAAGAGTTAAAAAAGTGGCCAGGTGATGTGGCTCACGCCTACAATCCCAGCACTTTGAGAGGCCGAGGTGGACAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCGGACATTGTAATGAGCCGAAATCACACCATTGCACTCCAGCCTGGGCAACAAAAGTGAAACTTCATCTCAAACAAAAACAAAACAAAACAAAACAAAAAAAATGAAAGGCAGAGGGAAGGCTCAGATACAAACACAGCTATTAAAAAGTCATTCCTCCTTTTGGCCAGAACCACCATCTTTCAGTAATTTGCCAAAATGACGAACACAAAGGGAAAGAGGAGAGGCACCTGATATATGTTCTCTAGGCCTTTTAGAAAACATGGAGTTGTTCCTTTGGCCATGTATATGCGAATCTGTAAGAAAGGTGAAATTGTAGACATCAAGGGAACGGGTACTGTTCAAAAAGGAATGCCCCACAAGTGTTACCATGGCAAAACTGGAAAAGTCTACAACGTGACCCAGCATGCTGTTGGCATCGCTGTAAACAAGTTAAGGGCAAGATTCTTGCCAAGAGAATTAATGTGCGTATTGAGCACATTAAACACTCTAAGAGCCAAGACAGCTTCCTGAAACGCGTGAAGGAAAATGATCAGAAAAAGAAAGAAGCCAAAGAGAAAGGTACGTGGGTTCAACTGAAGCACCAGCCTGCTCCACCCAGAGAAGCACACTTTGTGAGAACCAATGGGAAGGAGCCTGAGCAGCTGGAACCTATTCCCTATGAATTCATGGCATAATAGGTGTTAAAAAAAAAAAAAAAAGACCTTTGGACTGTAAAAAAAAAGAAAAGTCATTCTATCACCAGAACATTTAGCATATAAATTCCTCTTCTTACTACAATGGGCCTCATGCAATGAAGCAAATAAGATAACTTGTTAGAAGTTAACAACTCAATAGAACCTGAAAAACAGAGCAAAACCTTTCTGCTTTTTTTTCTCCTTAATCCTTAATTCATTCTCTGAACAGCAAGCCCAACCTAAGCCTTGTGACATGATGATCTACTTGCTGGCTGGTTTAGGAAAGTCTAAATGCAGAGATCCAGAGTCCAAGTTTCAGAATATTATTGTAGTTCCTCTTAAATCATTCCCTCAT
CCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAACTGGAGAAAGTATGGTGAAAAAAATTAACAATCAGAGTTCAATATAAATAAAGATGTCAGATACCACAGCATCTTTACATTGATGTTTCTTACCTTTCCACTCCTGGTTCTTTATTTTTACTGGTAGAACTATCTGCAGACACCTCAAACTTGTCAGCAGAAAGGCCTTCTGGATTCTGGCTTATAGGGTATTCACTACTTTTCTGTGAAGTTAATACTGCTTTAAATGGAATGAGAAAACAAATCTACTTTACTGCTTTGTTCTGATAGTGATAATTCAGGTTAGAATACTGATTTTTTTCAAAAGCATCAATCTATGATACACAAATTGGTTTTTAAACAAGTATATCAGGCAGAATTTTATAAACACAAGCAATGCAACAGACAGATGCTAGCACCAAATGGAATTCAATGATTAAAAAATAATAATGATAATAAAAGGAACACTTTAAGACAGAGTAAATAAAGACACCCAGCTGAGACAAGGCTGAAAAAAAAAATCTATATTCCTTGGCCCTGAATGATAAAAAATATATATAACAAATTTTTATCTCTGCAGCAAAATAAATTATGCCCAAATCCCCTCAGACAATAGGAAAGAAAGAGTACCGGAGAGCACAAAGTACATTATTTTCTCCATCCCTACTGCCTCCACATTGAAGACTGTATGAAATGGGGATTTCAGCTTCTGCATGTCGGGGGTAAACAAGACATGAGTGTCAGACATGAAAGAAAAAACAGGTGACATTTTGCTTCACATTTTCAATTACCGAAAAAAAAGAAAAAAACAAATAAACCCCCTAAACCAACACATACACAAAAAAATCCCAAGGTGCTGGTTGATAAGAAATCTTAAATAATACATGGAACTAATGATGAAATGGCACAAGAAGGGAAAAATCACAAAACATACTGAAGGCAAAGTTCTGGCATGTTAGTTCTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAAGCTGAAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCTAGTAGCTGACATTACAGGTGCCTGCCACCACGCCCAGCTAGTTTTTTTGGTATTTTTAGTAGAGATGGGATTTTACCCTGTTGATCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCGGGGATTACAGACATGAGCCACTGCGCCCAGCCTAATTCATTTTGTAATATATTTACTCCTCCAAATGTATCACTTTGTGCCACTGCCTTCTAGGAAGTGGCTTAAAGGCAGAAGTACTTATTTATTTATTTTTATTTATTTATTTTTTTTGAGATGGAGTTTGCTCTTGTTGCCCAGGCTGCAGTGCAATGGCATGATCTTGGCTCACCACAACCTCTCTGCCTCCCAGGTTCAAGCTGTTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTATGCACCACCTCGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCACGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGATGGGATTACAGGCGTGAGCCACTGCGCCCGACCGTTATTTTTCAACGAGATGGGTGTCTTGCTGTGTTGACCAGGCTGGTTTCAAACTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTACCCAGGCTGGAATACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCAGGTTCAAGCGATTCTCCTGCCTTAGCCTCCCAAGAAGATGGGATTATAGGTGCCCACCACCACCCCTTGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCGCCAACCTTGGCCTCACAAAGTGCTGGGATTATAGGCATGAGCCACCATACCCAGCCTGGTCTAGAACTCTTAAACTCAAGTGATCCTCCTGCCTTGGCATCTCACAGTGCTGGGATTATAGGCGTGAGCCACCATGCCTGGCCAAGGCGGAAATATTTAATAAGTAAAAACAAATAGTTAAAAATTGCAAAAGTCTTCTATTCATTAAAAAGTCACTGATGACTGTAATTCATTTTGAGCTTTTATTAGAAAAGCTAAAAGCCATAAATATAGGTAGAAAATTGAAACAAAAGATTGTATTAATTAAACTGTTTTTTTAAGACACTGGGTAGCCTGGGGGGAAATAATCATTGATTTCCTGAGTTAGTCTTCAAATGCATTATTTATAGTTTCCTTTATGCTTGTCTTTTCTGGACCTGTGAGTTTCTAGGATTGTTAAGAACTCTGTTGAAAGTAAGTAGGATCTAACTATGAAGAGAGGTATCATCCTCCCCACCCCCAATACAGGGTGATAATTGATAAAGGGTAATGTGCAAGTTCCAAGGAACCATATCAAACGGAATTAACCATTGGAAAGAGTTAAAAAAGTGGCCAGGTGATGTGGCTCACGCCTACAATCCCAGCACTTTGAGAGGCCGAGGTGGACAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCGGACATTGTAATGAGCCGAAATCACACCATTGCACTCCAGCCTGGGCAACAAAAGTGAAACTTCATCTCAAACAAAAACAAAACAAAACAAAACAAAAAAAATGAAAGGCAGAGGGAAGGCTCAGATACAAACACAGCTATTAAAAAGTCATTCCTCCTTTTGGCCAGAACCACCATCTTTCAGTAATTTGCCAAAATGACGAACACAAAGGGAAAGAGGAGAGGCACCTGATATATGTTCTCTAGGCCTTTTAGAAAACATGGAGTTGTTCCTTTGGCCATGTATATGCGAATCTGTAAGAAAGGTGAAATTGTAGACATCAAGGGAACGGGTACTGTTCAAAAAGGAATGCCCCACAAGTGTTACCATGGCAAAACTGGAAAAGTCTACAACGTGACCCAGCATGCTGTTGGCATCGCTGTAAACAAGTTAAGGGCAAGATTCTTGCCAAGAGAATTAATGTGCGTATTGAGCACATTAAACACTCTAAGAGCCAAGACAGCTTCCTGAAACGCGTGAAGGAAAATGATCAGAAAAAGAAAGAAGCCAAAGAGAAAGGTACGTGGGTTCAACTGAAGCACCAGCCTGCTCCACCCAGAGAAGCACACTTTGTGAGAACCAATGGGAAGGAGCCTGAGCAGCTGGAACCTATTCCCTATGAATTCATGGCATAATAGGTGTTAAAAAAAAAAAAAAAAGACCTTTGGACTGTAAAAAAAAAGAAAAGTCATTCTATCACCAGAACATTTAGCATATAAATTCCTCTTCTTACTACAATGGGCCTCATGCAATGAAGCAAATAAGATAACTTGTTAGAAGTTAACAACTCAATAGAACCTGAAAAACAGAGCAAAACCTTTCTGCTTTTTTTTCTCCTTAATCCTTAATTCATTCTCTGAACAGCAAGCCCAACCTAAGCCTTGTGACATGATGATCTACTTGCTGGCTGGTTTAGGAAAGTCTAAATGCAGAGATCCAGAGTCCAAGTTTCAGAATATTATTGTAGTTCCTCTTAAATCATTCCCTCATN
benign
273,045
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43080890—is it benign or pathogenic? If pathogenic, specify the disease(s).
benign
AATTGATAAAGGGTAATGTGCAAGTTCCAAGGAACCATATCAAACGGAATTAACCATTGGAAAGAGTTAAAAAAGTGGCCAGGTGATGTGGCTCACGCCTACAATCCCAGCACTTTGAGAGGCCGAGGTGGACAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCGGACATTGTAATGAGCCGAAATCACACCATTGCACTCCAGCCTGGGCAACAAAAGTGAAACTTCATCTCAAACAAAAACAAAACAAAACAAAACAAAAAAAATGAAAGGCAGAGGGAAGGCTCAGATACAAACACAGCTATTAAAAAGTCATTCCTCCTTTTGGCCAGAACCACCATCTTTCAGTAATTTGCCAAAATGACGAACACAAAGGGAAAGAGGAGAGGCACCTGATATATGTTCTCTAGGCCTTTTAGAAAACATGGAGTTGTTCCTTTGGCCATGTATATGCGAATCTGTAAGAAAGGTGAAATTGTAGACATCAAGGGAACGGGTACTGTTCAAAAAGGAATGCCCCACAAGTGTTACCATGGCAAAACTGGAAAAGTCTACAACGTGACCCAGCATGCTGTTGGCATCGCTGTAAACAAGTTAAGGGCAAGATTCTTGCCAAGAGAATTAATGTGCGTATTGAGCACATTAAACACTCTAAGAGCCAAGACAGCTTCCTGAAACGCGTGAAGGAAAATGATCAGAAAAAGAAAGAAGCCAAAGAGAAAGGTACGTGGGTTCAACTGAAGCACCAGCCTGCTCCACCCAGAGAAGCACACTTTGTGAGAACCAATGGGAAGGAGCCTGAGCAGCTGGAACCTATTCCCTATGAATTCATGGCATAATAGGTGTTAAAAAAAAAAAAAAAAGACCTTTGGACTGTAAAAAAAAAGAAAAGTCATTCTATCACCAGAACATTTAGCATATAAATTCCTCTTCTTACTACAATGGGCCTCATGCAATGAAGCAAATAAGATAACTTGTTAGAAGTTAACAACTCAATAGAACCTGAAAAACAGAGCAAAACCTTTCTGCTTTTTTTTCTCCTTAATCCTTAATTCATTCTCTGAACAGCAAGCCCAACCTAAGCCTTGTGACATGATGATCTACTTGCTGGCTGGTTTAGGAAAGTCTAAATGCAGAGATCCAGAGTCCAAGTTTCAGAATATTATTGTAGTTCCTCTTAAATCATTCCCTCATCTAGATGTCTTAACATGTTACATTCTTTGTGGATAGGAAGTATGGGCCACACCAAACATTTAATAAACTTACAGACTGCCCACTGTGTGCTAAGCATTGTACAGGGTATTGTGAAGAATTAAGGAAGACACTGGAAGACAACAGATATTAAGAAATAATAAACTAGGCCAGGCACCGTAGCTCCCAAGTAGGTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTA
AATTGATAAAGGGTAATGTGCAAGTTCCAAGGAACCATATCAAACGGAATTAACCATTGGAAAGAGTTAAAAAAGTGGCCAGGTGATGTGGCTCACGCCTACAATCCCAGCACTTTGAGAGGCCGAGGTGGACAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCGGACATTGTAATGAGCCGAAATCACACCATTGCACTCCAGCCTGGGCAACAAAAGTGAAACTTCATCTCAAACAAAAACAAAACAAAACAAAACAAAAAAAATGAAAGGCAGAGGGAAGGCTCAGATACAAACACAGCTATTAAAAAGTCATTCCTCCTTTTGGCCAGAACCACCATCTTTCAGTAATTTGCCAAAATGACGAACACAAAGGGAAAGAGGAGAGGCACCTGATATATGTTCTCTAGGCCTTTTAGAAAACATGGAGTTGTTCCTTTGGCCATGTATATGCGAATCTGTAAGAAAGGTGAAATTGTAGACATCAAGGGAACGGGTACTGTTCAAAAAGGAATGCCCCACAAGTGTTACCATGGCAAAACTGGAAAAGTCTACAACGTGACCCAGCATGCTGTTGGCATCGCTGTAAACAAGTTAAGGGCAAGATTCTTGCCAAGAGAATTAATGTGCGTATTGAGCACATTAAACACTCTAAGAGCCAAGACAGCTTCCTGAAACGCGTGAAGGAAAATGATCAGAAAAAGAAAGAAGCCAAAGAGAAAGGTACGTGGGTTCAACTGAAGCACCAGCCTGCTCCACCCAGAGAAGCACACTTTGTGAGAACCAATGGGAAGGAGCCTGAGCAGCTGGAACCTATTCCCTATGAATTCATGGCATAATAGGTGTTAAAAAAAAAAAAAAAAGACCTTTGGACTGTAAAAAAAAAGAAAAGTCATTCTATCACCAGAACATTTAGCATATAAATTCCTCTTCTTACTACAATGGGCCTCATGCAATGAAGCAAATAAGATAACTTGTTAGAAGTTAACAACTCAATAGAACCTGAAAAACAGAGCAAAACCTTTCTGCTTTTTTTTCTCCTTAATCCTTAATTCATTCTCTGAACAGCAAGCCCAACCTAAGCCTTGTGACATGATGATCTACTTGCTGGCTGGTTTAGGAAAGTCTAAATGCAGAGATCCAGAGTCCAAGTTTCAGAATATTATTGTAGTTCCTCTTAAATCATTCCCTCATCTAGATGTCTTAACATGTTACATTCTTTGTGGATAGGAAGTATGGGCCACACCAAACATTTAATAAACTTACAGACTGCCCACTGTGTGCTAAGCATTGTACAGGGTATTGTGAAGAATTAAGGAAGACACTGGAAGACAACAGATATTAAGAAATAATAAACTAGGCCAGGCACCGTAGCTCCCAAGTAGGTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTT
benign
273,068
Chromosome 17, position 43082402, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CCCGGCTAATTTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGA
CCCGGCTAATTTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAN
pathogenic
273,083
Clinically, how would you classify the variant at chromosome 17, position 43082404, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CGGCTAATTTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGT
CGGCTAATTTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTN
pathogenic
273,087
A genetic variant at chromosome 17, position 43082412, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGC
TTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGAATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTG
pathogenic
273,091
Evaluate this variant at chromosome 17, position 43082412, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
TTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGC
TTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGTGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCN
pathogenic
273,092
Regarding the variant at chromosome 17 and position 43082418, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCT
TAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGC
pathogenic
273,094
Is the chromosome 17, position 43082422 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAA
TTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCT
pathogenic
273,096
Regarding the variant at chromosome 17 and position 43082422, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAA
TTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAANNNNNNNN
pathogenic
273,097
Regarding the variant at chromosome 17 and position 43082428, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
AGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATA
AGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATANN
pathogenic
273,100
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43082439—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAA
TTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAA
pathogenic
273,106
Mutation found at chromosome 17 position 43082439, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAA
TTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAAN
pathogenic
273,107
A mutation at chromosome position 43082450 on chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
GGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAAATCACTTTTAG
GGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAAATCACTTTTAGN
pathogenic
273,111
Evaluate if the mutation on chromosome 17 at position 43082451 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
GTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAAATCACTTTTAGA
GTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAAATCACTTTTAGAN
pathogenic
273,112
Assess the variant on chromosome 17, position 43082451, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAAATCACTTTTAGA
GTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAAATCACTTTTAGANN
pathogenic
273,113
A mutation at chromosome position 43082452 on chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast']
TCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAAATCACTTTTAGAA
TCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAAATCACTTTTAGAANN
pathogenic
273,114
Determine whether the variant at chromosome 17, position 43082460, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAAATCACTTTTAGAAGGAACAGC
GTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAAATCACTTTTAGAAGGAACAG
pathogenic
273,119
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43082463—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAAATCACTTTTAGAAGGAACAGCAAT
TCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTAGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAAATCACTTTTAGAAGGAACAGCAATN
pathogenic
273,120
A genetic variant on chromosome 17, position 43082464, affects the gene BRCA1 (BRCA1 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAAATCACTTTTAGAAGGAACAGCAATG
CGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAAATCACTTTTAGAAGGAACAGCAATGNNNNNNN
pathogenic
273,121
Assess the variant on chromosome 17, position 43082465, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome']
GAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGATGGAAGGGTAGCTGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAAATCACTTTTAGAAGGAACAGCAATGG
GAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAAGATCAGGAGTTCAAGACCAGCCTAGTTAACAGTGCGTCCCTGTCTCTACTTAAAAAAAAAATTAAAGAAAAGAAAAAATTATTTTTAAAAAGTTCATTTGAGTTTCAGTTAGACTCACACCAGATTTAGGGAGAAAAAGGCTCAAAACTTATGTTGGTATTAAGTTGTGATATCCAAAACAATTCAGAAATTAAGCATTTCAGTTACAGATCTCCAGAAAAAAATAAACACACGTATATACCAAAGAGGAGATAGTAGATTTACACAGATATTCAAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGACTTGAGTTCCTAGAAAGACTCCAAGAAAGGTCTTAAAGTTCCCAGTTGGACTGTGGAACGGGGTGCTGAAGAAGGAACTTTAACACTCAGATAAGAATCACTGAGCTAGGAATGAAGTGTACTTTGGGAGTACTCACCACCCCTGCATGTTTCTAAGCAGCATCCTAGTGGGGACCCCATGCCTAGCATCTCCTATGTGTCTGTTTGTTTGCCCCTATTTAAAAATCTGCCTGATGTATTGTCTTTCCAATTAAAAACTCAAATTTCCATCTCACTTTCCTTCATTTATGCCATTATTCCTCAGCTCAGTGCTCACTTCTTATAGGAAGTCAGCTCTGATCAACTGCATCTGCCTGGTTACTCCAATGGCATCCTCTCAGAGGTCCATCTGGATTTTTTTTGATAACTGTAACATTGCTATAAAGCACTTGACTCTATTGCATAATTAGGCTTTCTGTGTTGTTCTTTTCTTTTCCTTTTGAACTAACAGGAGCTCTACATCACTAGGCTTTCTGTGGATCAAAGTGCAGTTCCTGAAGTATAGGATGTCTCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAGGATCATAAAATGTTGGAGCTAGGTCCTTACTCTTCAGAAGGAGATAAAGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTTGGCCAACAATACACACCTTTTTCTGATGTGCTTTGTTCTGGATTTCGCAGGTCCTCAAGGGCAGAAGAGTCACTTATGGGCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTATCCCTCTGCTTCAAAAACGATAAATGGCACCAAGAAAATGAAATACTTTGAGAAGCTTTCCATTAAATGAAAATATATCATACAAATTAATTTTAGCACAGGAATTGAAATCACCTAGTATGGAACTACAAGTTCTAGCTGAACACCTTTTAATCTAACCACATTCATGCAATTAATGCCCATGAAATTATTTCCAAATGATGTTAGTGAGGGAAAAAATCCTCAAATTCCCCCAAATAGACTTGATGTTATTGTGATGTCCTTTTGAAGTTGGTTATTTTCTTTTAAAGCTAGGGAGTGAAAAAATAATTAAGGCATTTAAACACTATCGATATTTAAAATTAGCATGAATCTGTTAACATTTTATTTATATGGGCACATTTCAAAGACTTGGTGTTGTGAGATTCATCAGACATTTAGGTTAGTTCATATAAAAATGTGTGATTTTTAGACTGATGTAATGTTGAAAAAAGCCCTCTATCTATGGCATTTTATAAAAATACAACAAATATAAAAATACTATCAGTAATCCTGCCTAGATTACTGGCTTGTGAGGACTCTTCCTTTTCTGGGATTCTTTGAACCTTTAGTTTCTTTTCTTTCTTTCTTTCTTTTTTTTTTTAAGTCTCCCTCTGTCACCCAGGTTGGCACCATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCTCAAGTAGCTGGCATTACAGGTGCTTGCCAAGACGCCCGGCTAATTTTGGTAATTTTTGTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCAGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAGAGACATGCGCCATTGTGCCTGACCTGAACCTTTAGTTTCTAACAGAAAAAGCAAAAAGCTAATTCATGAATCTATCTGTTTGCTCAGTTAATTAGACAACTATTTACTATCTATTAAGCACCAGGCGCTGTCCTAGTACTGAGGATATAGCCCTCATGGTGCTGCCATTCTAGACAGGGACATCTCATCTAGAATGTGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTACCTGGTTCAAGCAATTCTCCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACCTGTTACCATGCCCGACTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGTCACTGTGCCTGGCTTCAAAATATACATGTTTAAAAATCACTTTTAGAAGGAACAGCAATGGNNNNNNNNNNNNNNNNNNNNNNNNN
pathogenic
273,122