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 |
|---|---|---|---|---|---|
Located at chromosome 17 position 43094833, the variant affecting gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAGACTCATTCTTTCCTTGATTTTCTTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTT... | TAGACTCATTCTTTCCTTGATTTTCTTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTT... | pathogenic | 275,630 |
Considering the genetic mutation at chromosome 17, position 43094835, 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', 'Malignant_tumor_of_breast'] | GACTCATTCTTTCCTTGATTTTCTTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTC... | GACTCATTCTTTCCTTGATTTTCTTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTC... | pathogenic | 275,631 |
A genetic variant at chromosome 17, position 43094838, 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', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCATTCTTTCCTTGATTTTCTTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAA... | TCATTCTTTCCTTGATTTTCTTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAA... | pathogenic | 275,635 |
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43094845—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCCTTGATTTTCTTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCA... | TTCCTTGATTTTCTTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCA... | pathogenic | 275,637 |
Does the genetic variant at chromosome 17, position 43094852, 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'] | ATTTTCTTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCACACTGAC... | ATTTTCTTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCACACTGAC... | pathogenic | 275,639 |
Clinical classification of chromosome 17, position 43094854, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'likely other unspecified diseases'] | TTTCTTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCACACTGACTC... | TTTCTTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCACACTGACTC... | pathogenic | 275,641 |
The chromosome 17, position 43094858 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', 'Malignant_tumor_of_breast'] | TTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCACACTGACTCACAC... | TTCCTTTTGTTCACATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCACACTGACTCACAC... | pathogenic | 275,642 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43094871 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCACACTGACTCACACATTTATTTGGTTC... | CATTCAAAAGTGACTTTTGGACTTTGTTTCTTTAAGGACCCAGAGTGGGCAGAGAATGTTGCACATTCCTCTTCTGCATTTCCTGGATTTGAAAACGGAGCAAATGACTGGCGCTTTGAAACCTTGAATGTATTCTGCAAATACTGAGCATCAAGTTCACTTTCTTCCATTTCTATGCTTGTTTCCCGACTGTGGTTAACTTCATGTCCCAATGGATACTTAAAGCCTTCTGTGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCACACTGACTCACACATTTATTTGGTTC... | benign | 275,646 |
The chromosome 17, position 43095103 genetic variant in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCACACTGACTCACACATTTATTTGGTTCTGTTTTTGCCTTCCCTAGAGTGCTAACTTCCAGTAACGAGATACTTTCCTGAGTGCCATAATCAGTACCAGGTACCAATGAAATACTGCTACTCTCTACAGATCTTTCAGTTTGCAAAACCCTTTCTCCACTTAACATGAGATCTTTGGGGTCTTCAGCATTATTAGACACTTTAACTGTTTCTAGTTTCTCTTCTTTTTCTTCTCTTGGAAGGCTAGGATTGACAAATTCT... | TGTCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCACACTGACTCACACATTTATTTGGTTCTGTTTTTGCCTTCCCTAGAGTGCTAACTTCCAGTAACGAGATACTTTCCTGAGTGCCATAATCAGTACCAGGTACCAATGAAATACTGCTACTCTCTACAGATCTTTCAGTTTGCAAAACCCTTTCTCCACTTAACATGAGATCTTTGGGGTCTTCAGCATTATTAGACACTTTAACTGTTTCTAGTTTCTCTTCTTTTTCTTCTCTTGGAAGGCTAGGATTGACAAATTCT... | benign | 275,651 |
Considering the genetic mutation at chromosome 17, position 43095105, impacting BRCA1 (BRCA1 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCACACTGACTCACACATTTATTTGGTTCTGTTTTTGCCTTCCCTAGAGTGCTAACTTCCAGTAACGAGATACTTTCCTGAGTGCCATAATCAGTACCAGGTACCAATGAAATACTGCTACTCTCTACAGATCTTTCAGTTTGCAAAACCCTTTCTCCACTTAACATGAGATCTTTGGGGTCTTCAGCATTATTAGACACTTTAACTGTTTCTAGTTTCTCTTCTTTTTCTTCTCTTGGAAGGCTAGGATTGACAAATTCTTT... | TCATTTCTATTATCTTTGGAACAACCATGAATTAGTCCCTTGGGGTTTTCAAATGCTGCACACTGACTCACACATTTATTTGGTTCTGTTTTTGCCTTCCCTAGAGTGCTAACTTCCAGTAACGAGATACTTTCCTGAGTGCCATAATCAGTACCAGGTACCAATGAAATACTGCTACTCTCTACAGATCTTTCAGTTTGCAAAACCCTTTCTCCACTTAACATGAGATCTTTGGGGTCTTCAGCATTATTAGACACTTTAACTGTTTCTAGTTTCTCTTCTTTTTCTTCTCTTGGAAGGCTAGGATTGACAAATTCTTT... | benign | 275,652 |
Evaluate if the mutation on chromosome 17 at position 43095918 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Fanconi_anemia,_complementation_group_S', 'Fanconi_anemia_complementation_group_A', 'Hereditary_cancer-predisposing_syndrome'] | TCATGACCACTATTAGTAATATTCATCACTTGACCATTCTGCTCCGTTTGGTTAGTTCCCTGATTTATCATTTCAGGAGTCTTTTGAACTGCCAAATCTGCTTTCTTGATAAAATCCTCAGGATGAAGGCCTGATGTAGGTCTCCTTTTACGCTTTAATTTATTTGTGAGGGGACGCTCTTGTATTATCTGTGGCTCAGTAACAAATGCTCCTATAATTAGATTTTCAGTTACATGGCTTAAGTTGGGGAGGCTTGCCTTCTTCCGATAGGTTTTCCCAAATATTTTGTCTTCAATATTACTCTCTACTGATTTGGAGTG... | TCATGACCACTATTAGTAATATTCATCACTTGACCATTCTGCTCCGTTTGGTTAGTTCCCTGATTTATCATTTCAGGAGTCTTTTGAACTGCCAAATCTGCTTTCTTGATAAAATCCTCAGGATGAAGGCCTGATGTAGGTCTCCTTTTACGCTTTAATTTATTTGTGAGGGGACGCTCTTGTATTATCTGTGGCTCAGTAACAAATGCTCCTATAATTAGATTTTCAGTTACATGGCTTAAGTTGGGGAGGCTTGCCTTCTTCCGATAGGTTTTCCCAAATATTTTGTCTTCAATATTACTCTCTACTGATTTGGAGTG... | pathogenic | 275,672 |
Does the variant impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17, position 43095937, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TATTCATCACTTGACCATTCTGCTCCGTTTGGTTAGTTCCCTGATTTATCATTTCAGGAGTCTTTTGAACTGCCAAATCTGCTTTCTTGATAAAATCCTCAGGATGAAGGCCTGATGTAGGTCTCCTTTTACGCTTTAATTTATTTGTGAGGGGACGCTCTTGTATTATCTGTGGCTCAGTAACAAATGCTCCTATAATTAGATTTTCAGTTACATGGCTTAAGTTGGGGAGGCTTGCCTTCTTCCGATAGGTTTTCCCAAATATTTTGTCTTCAATATTACTCTCTACTGATTTGGAGTGAACTCTTTCACTTTTACAT... | TATTCATCACTTGACCATTCTGCTCCGTTTGGTTAGTTCCCTGATTTATCATTTCAGGAGTCTTTTGAACTGCCAAATCTGCTTTCTTGATAAAATCCTCAGGATGAAGGCCTGATGTAGGTCTCCTTTTACGCTTTAATTTATTTGTGAGGGGACGCTCTTGTATTATCTGTGGCTCAGTAACAAATGCTCCTATAATTAGATTTTCAGTTACATGGCTTAAGTTGGGGAGGCTTGCCTTCTTCCGATAGGTTTTCCCAAATATTTTGTCTTCAATATTACTCTCTACTGATTTGGAGTGAACTCTTTCACTTTTACAT... | benign | 275,677 |
Clinical significance of chromosome 17, position 43096376, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CCCATCATGTGAGTCATCAGAACCTAACAGTTCATCACTTCTGGAAAACCACTCATTAACTTTCTGAATGCTGCTATTTAGTGTTATCCAAGGAACATCTTCAGTATCTCTAGGATTCTCTGAGCATGGCAGTTTCTGCTTATTCCATTCTTTTCTCTCACACAGGGGATCAGCATTCAGATCTACCTTTTTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCCTTGCTAAGCCAGGCTGTTTGCTTTTATTACAGAATTCAGCCTTTTCTACATTCATTCTGT... | CCCATCATGTGAGTCATCAGAACCTAACAGTTCATCACTTCTGGAAAACCACTCATTAACTTTCTGAATGCTGCTATTTAGTGTTATCCAAGGAACATCTTCAGTATCTCTAGGATTCTCTGAGCATGGCAGTTTCTGCTTATTCCATTCTTTTCTCTCACACAGGGGATCAGCATTCAGATCTACCTTTTTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCCTTGCTAAGCCAGGCTGTTTGCTTTTATTACAGAATTCAGCCTTTTCTACATTCATTCTGT... | benign | 275,683 |
Does the variant impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17, position 43096571, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCCTTGCTAAGCCAGGCTGTTTGCTTTTATTACAGAATTCAGCCTTTTCTACATTCATTCTGTCTTTAGTGAGTAATAAACTGCTGTTCTCATGCTGTAATGAGCTGGCATGAGTATTTGTGCCACATGGCTCCACATGCAAGTTTGAAACAGAACTACCCTGATACTTTTCTGGATGCCTCTCAGCTGCACGCTTCTCAGTGGTGTTCAAATCATTATTACTGGGTTGATGATGTTCAGTATTTGTTACATCCGTCT... | TGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTTGGCTCCTTGCTAAGCCAGGCTGTTTGCTTTTATTACAGAATTCAGCCTTTTCTACATTCATTCTGTCTTTAGTGAGTAATAAACTGCTGTTCTCATGCTGTAATGAGCTGGCATGAGTATTTGTGCCACATGGCTCCACATGCAAGTTTGAAACAGAACTACCCTGATACTTTTCTGGATGCCTCTCAGCTGCACGCTTCTCAGTGGTGTTCAAATCATTATTACTGGGTTGATGATGTTCAGTATTTGTTACATCCGTCT... | benign | 275,687 |
Classify the chromosome 17 variant at position 43097231 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TACTGGCCATTAAGTCTACTTAATACTCTGTTCTATCTACAGACTTACCACTCCCTATATTTAAAAACCAGTAGGTAAAAGATGAAACACAAATACACCAATTAAAAGTAAAGGGCAGGCCAGGCACAGTGGCTCAAGCCTGTAACTGCAGCACTTTGGGAGGCTGAAGTGGGCAGACTGCTTGAGTCCAGGAGTTTGAGACCAGCCTCGGTAACATGGTGAAACCCCATCTCTATAAAACCACAAAAAATTAACCGGGTGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATAGCTTGA... | TACTGGCCATTAAGTCTACTTAATACTCTGTTCTATCTACAGACTTACCACTCCCTATATTTAAAAACCAGTAGGTAAAAGATGAAACACAAATACACCAATTAAAAGTAAAGGGCAGGCCAGGCACAGTGGCTCAAGCCTGTAACTGCAGCACTTTGGGAGGCTGAAGTGGGCAGACTGCTTGAGTCCAGGAGTTTGAGACCAGCCTCGGTAACATGGTGAAACCCCATCTCTATAAAACCACAAAAAATTAACCGGGTGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATAGCTTGA... | benign | 275,695 |
Is the genetic variant on chromosome 17, position 43097291, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TTAAAAACCAGTAGGTAAAAGATGAAACACAAATACACCAATTAAAAGTAAAGGGCAGGCCAGGCACAGTGGCTCAAGCCTGTAACTGCAGCACTTTGGGAGGCTGAAGTGGGCAGACTGCTTGAGTCCAGGAGTTTGAGACCAGCCTCGGTAACATGGTGAAACCCCATCTCTATAAAACCACAAAAAATTAACCGGGTGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATAGCTTGAGCCTTGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCATCACTGCACTCCAGCCTGGGCAA... | TTAAAAACCAGTAGGTAAAAGATGAAACACAAATACACCAATTAAAAGTAAAGGGCAGGCCAGGCACAGTGGCTCAAGCCTGTAACTGCAGCACTTTGGGAGGCTGAAGTGGGCAGACTGCTTGAGTCCAGGAGTTTGAGACCAGCCTCGGTAACATGGTGAAACCCCATCTCTATAAAACCACAAAAAATTAACCGGGTGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATAGCTTGAGCCTTGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCATCACTGCACTCCAGCCTGGGCAA... | benign | 275,708 |
Located at chromosome 17 position 43097346, the variant affecting gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CAGGCCAGGCACAGTGGCTCAAGCCTGTAACTGCAGCACTTTGGGAGGCTGAAGTGGGCAGACTGCTTGAGTCCAGGAGTTTGAGACCAGCCTCGGTAACATGGTGAAACCCCATCTCTATAAAACCACAAAAAATTAACCGGGTGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATAGCTTGAGCCTTGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCATCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCATCTCAAAAAAAAACAAACAAACAAACAAAAAAAAAAACGA... | CAGGCCAGGCACAGTGGCTCAAGCCTGTAACTGCAGCACTTTGGGAGGCTGAAGTGGGCAGACTGCTTGAGTCCAGGAGTTTGAGACCAGCCTCGGTAACATGGTGAAACCCCATCTCTATAAAACCACAAAAAATTAACCGGGTGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATAGCTTGAGCCTTGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCATCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCATCTCAAAAAAAAACAAACAAACAAACAAAAAAAAAAACGA... | benign | 275,712 |
A genetic alteration at chromosome 17, position 43098204, in gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CACTTGAGGTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCGCGCCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGTATGGCTTCAACCTGGGAGGCAGACGTTGCGGAGAGGTGAGATCACACCTCTGTACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAGAGAAAGAAAGAAATGGAATGGTCAATTAACCGGGCGTGGTGGTGTATACCTGTAGTCCCAGCTACTCGTGAGATTGAG... | CACTTGAGGTCATGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCGCGCCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGTATGGCTTCAACCTGGGAGGCAGACGTTGCGGAGAGGTGAGATCACACCTCTGTACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAGAGAAAGAAAGAAATGGAATGGTCAATTAACCGGGCGTGGTGGTGTATACCTGTAGTCCCAGCTACTCGTGAGATTGAG... | benign | 275,716 |
Variant at chromosome position 43098661, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AAGGAAGGTAGGTAACATAGTTGGGGTTGCTTGTAGTTTATTATATAACATACAGACAAAGCTTGAGAGATATGTGGAAATAAGGAACAGAGGAAAGAAAGAGTTGAAAATGAAGTCCTTGAACATTTTCATCAGTCACAATTACTGCTGTGTCAATATTACTGTATATGAGGAACTTAGAGAACAATCTGCTAGAAGCAAGCATGTGCAGAGTTCTACTGTTATCCTAAATTCCTTTGGACAGTGCTAATAACTAAATCCAACAAACAAAAAGGGTATTTCCTCCACTATAAAATGAGAGAACTAAACTAGATGATCTC... | AAGGAAGGTAGGTAACATAGTTGGGGTTGCTTGTAGTTTATTATATAACATACAGACAAAGCTTGAGAGATATGTGGAAATAAGGAACAGAGGAAAGAAAGAGTTGAAAATGAAGTCCTTGAACATTTTCATCAGTCACAATTACTGCTGTGTCAATATTACTGTATATGAGGAACTTAGAGAACAATCTGCTAGAAGCAAGCATGTGCAGAGTTCTACTGTTATCCTAAATTCCTTTGGACAGTGCTAATAACTAAATCCAACAAACAAAAAGGGTATTTCCTCCACTATAAAATGAGAGAACTAAACTAGATGATCTC... | benign | 275,719 |
Is the variant located on chromosome 17 at position 43098983, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AGGTTTCTTCCAATACCATGATTCTAGTCTGGAGAAACACCAGCCTACTTGAGGGAGGAAGGTGGGAAGAGGGAGAAATTCAGAAAGAAAGCAAACAAAAAACTGTGGGGTATGCTTAGTACCCGGATGATGAAAAAAATCTATACACCAAATCCCAAGTCGTGTGTTTACCTATATAACAAACTGCACATACATCCCTGAACCTAAAATAAAAGTTAAAATATTTTTAAAAAGAGAGAAACATCAATCCTTAATATTAACTAAATAGGAAAATACCAGCTTCATAGACAAAGGTTCTCTTTGACTCACCTGCAATAAGT... | AGGTTTCTTCCAATACCATGATTCTAGTCTGGAGAAACACCAGCCTACTTGAGGGAGGAAGGTGGGAAGAGGGAGAAATTCAGAAAGAAAGCAAACAAAAAACTGTGGGGTATGCTTAGTACCCGGATGATGAAAAAAATCTATACACCAAATCCCAAGTCGTGTGTTTACCTATATAACAAACTGCACATACATCCCTGAACCTAAAATAAAAGTTAAAATATTTTTAAAAAGAGAGAAACATCAATCCTTAATATTAACTAAATAGGAAAATACCAGCTTCATAGACAAAGGTTCTCTTTGACTCACCTGCAATAAGT... | benign | 275,722 |
Considering the variant on chromosome 17, location 43099409, 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? | benign | GTTGAAAAACAGATATTCAACTAGAAATATTTACTGAGCATCTACTGTGGCAGGTACAATGCTAGTTAAGCTAGTATGTAATACAGAGAAGTGGTTAAAGGCATGGGCTTCGCCAGGCACAGTGGCTCTCACCTGTAATCCCAGCACTTGAGGAGGCCGAGATGGGTGGATTATTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACAAAGTGAGACCCCCGTTTCTACTGAAAACAAAAACAAAAACAAAAAAAAAGCACAGGCTCTGACATCTAACTTCCTAGGTTTGAATCATGGCTCAGCCACTTACTAGGTTTA... | GTTGAAAAACAGATATTCAACTAGAAATATTTACTGAGCATCTACTGTGGCAGGTACAATGCTAGTTAAGCTAGTATGTAATACAGAGAAGTGGTTAAAGGCATGGGCTTCGCCAGGCACAGTGGCTCTCACCTGTAATCCCAGCACTTGAGGAGGCCGAGATGGGTGGATTATTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACAAAGTGAGACCCCCGTTTCTACTGAAAACAAAAACAAAAACAAAAAAAAAGCACAGGCTCTGACATCTAACTTCCTAGGTTTGAATCATGGCTCAGCCACTTACTAGGTTTA... | benign | 275,723 |
Mutation at chromosome 17, position 43099785, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | AAGTATAATAGGAACAATCTCAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTG... | AAGTATAATAGGAACAATCTCAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTG... | pathogenic | 275,741 |
Regarding the variant found on chromosome 17 at position 43099790 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'] | TAATAGGAACAATCTCAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTG... | TAATAGGAACAATCTCAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTG... | pathogenic | 275,744 |
Does the variant impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17, position 43099790, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TAATAGGAACAATCTCAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTG... | TAATAGGAACAATCTCAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTG... | pathogenic | 275,745 |
Mutation at chromosome 17, position 43099792, 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'] | ATAGGAACAATCTCAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTC... | ATAGGAACAATCTCAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTC... | pathogenic | 275,746 |
Evaluate if the mutation on chromosome 17 at position 43099801 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATCTCAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTT... | ATCTCAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTT... | pathogenic | 275,751 |
Determine whether the variant at chromosome 17, position 43099802, 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', 'Breast_neoplasm'] | TCTCAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTG... | TCTCAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTG... | pathogenic | 275,752 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43099803, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTCAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGG... | CTCAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGG... | pathogenic | 275,754 |
Evaluate the clinical significance of the mutation at chromosome 17, position 43099805 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'] | CAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAG... | CAGAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAG... | pathogenic | 275,755 |
Clinically, how would you classify the variant at chromosome 17, position 43099807, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTG... | GAGGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTG... | pathogenic | 275,757 |
Assess the variant on chromosome 17, position 43099809, 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCA... | GGTCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCA... | pathogenic | 275,759 |
For chromosome 17, position 43099811, 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'] | TCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGT... | TCTGACAAGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGT... | pathogenic | 275,760 |
Evaluate if the mutation on chromosome 17 at position 43099818 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGA... | AGCATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGA... | pathogenic | 275,766 |
Variant on chromosome 17, at position 43099820, 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'] | CATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATC... | CATCTAATGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATC... | pathogenic | 275,768 |
The mutation impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17 at position 43099827: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTC... | TGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTC... | pathogenic | 275,770 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43099827—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTC... | TGAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTC... | pathogenic | 275,772 |
Is the variant located on chromosome 17 at position 43099828, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCA... | GAGTTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCA... | pathogenic | 275,773 |
Determine whether the variant at chromosome 17, position 43099831, 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'] | TTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTA... | TTATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTA... | pathogenic | 275,775 |
Classify the chromosome 17 variant at position 43099833 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', 'Familial_cancer_of_breast'] | ATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACA... | ATACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACA... | pathogenic | 275,776 |
Chromosome 17, position 43099835, 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'] | ACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGC... | ACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGC... | pathogenic | 275,777 |
Considering the genetic mutation at chromosome 17, position 43099835, 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', 'Hereditary_cancer-predisposing_syndrome'] | ACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGC... | ACAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGC... | pathogenic | 275,778 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43099836, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | CAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCC... | CAAGAAAAGCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCC... | pathogenic | 275,780 |
Benign or pathogenic: chromosome 17, position 43099844, gene BRCA1 (BRCA1 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | GCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTC... | GCACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTC... | pathogenic | 275,783 |
Regarding the variant found on chromosome 17 at position 43099846 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'] | ACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCT... | ACAATAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCT... | pathogenic | 275,785 |
Assess the variant on chromosome 17, position 43099850, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['BRCA1-related_disorder', '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'] | TAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGT... | TAGTGCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGT... | pathogenic | 275,786 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43099854 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'] | GCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAA... | GCCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAA... | pathogenic | 275,788 |
Is the genetic change at chromosome 17, position 43099855, within gene BRCA1 (BRCA1 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAAT... | CCTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAAT... | pathogenic | 275,789 |
A genetic variant on chromosome 17, position 43099856, 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAATG... | CTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAATG... | pathogenic | 275,790 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43099856 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAATG... | CTGGAATATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAATG... | pathogenic | 275,791 |
Does the genetic variant at chromosome 17, position 43099863, 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', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAATGTATCCAC... | ATAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAATGTATCCAC... | pathogenic | 275,796 |
Determine whether the variant at chromosome 17, position 43099864, 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', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAATGTATCCACT... | TAGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAATGTATCCACT... | pathogenic | 275,797 |
Clinical significance of chromosome 17, position 43099865, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | AGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAATGTATCCACTC... | AGTTAAGTGCTCCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAATGTATCCACTC... | pathogenic | 275,798 |
Chromosome 17, position 43099876, 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'] | CCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAATGTATCCACTCACCTCTGCCTC... | CCTAAATATCAACTACTATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAATGTATCCACTCACCTCTGCCTC... | pathogenic | 275,800 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43099892 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['BRCA1-related_cancer_predisposition', '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'] | TATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAATGTATCCACTCACCTCTGCCTCCTGAGTAGCTGGGACT... | TATAACTATTTTTACAATGCCTGTTGTCTAGGAATTTATGATCATAAGGGGGGAAAACAGTAAGTGTTATGATAAATAGATGGTGGTGCCTGGGAGCTCAAAAGATGGCTATCCTTTTTAATTATAAATATATTCTAAAAGAAAATCCAATTTGAGAGCCCAGTTTGAATTCTGAGCTCAGCAGCTCTTTTTTTTTTTTTTTTGGAGGTCTTGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCAAACTCCTGGGTTCAATGTATCCACTCACCTCTGCCTCCTGAGTAGCTGGGACT... | pathogenic | 275,802 |
Classify the chromosome 17 variant at position 43100558 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TACCACACCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTAAAGAGGGGTTTCACCAGGTTATCCAGGCTGGTCTCGAACTCTGACCTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTATTGGGATTACAGGCATGAGCCACCGCACCGGCCAAAAATGTATTATTATTTTAAAAATAGAGACAGGGTTCCCCTATGTTGGCCAGGCTGGTCTTAAACTCGTGGACTCAACCAATCCTTCTGCCTCGGTCTTCCAAAGCGTTAGGATTACAGGCACGAGCCATCCTGCCCAGCCAAGATTCAGCTCTTTTTTTTTT... | TACCACACCCAGCTAATTTTTTTTTTTTTTTGTATTTTTAGTAAAGAGGGGTTTCACCAGGTTATCCAGGCTGGTCTCGAACTCTGACCTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTATTGGGATTACAGGCATGAGCCACCGCACCGGCCAAAAATGTATTATTATTTTAAAAATAGAGACAGGGTTCCCCTATGTTGGCCAGGCTGGTCTTAAACTCGTGGACTCAACCAATCCTTCTGCCTCGGTCTTCCAAAGCGTTAGGATTACAGGCACGAGCCATCCTGCCCAGCCAAGATTCAGCTCTTTTTTTTTT... | benign | 275,807 |
Considering the variant on chromosome 17, location 43100574, 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? | benign | TTTTTTTTTTTTTTTGTATTTTTAGTAAAGAGGGGTTTCACCAGGTTATCCAGGCTGGTCTCGAACTCTGACCTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTATTGGGATTACAGGCATGAGCCACCGCACCGGCCAAAAATGTATTATTATTTTAAAAATAGAGACAGGGTTCCCCTATGTTGGCCAGGCTGGTCTTAAACTCGTGGACTCAACCAATCCTTCTGCCTCGGTCTTCCAAAGCGTTAGGATTACAGGCACGAGCCATCCTGCCCAGCCAAGATTCAGCTCTTTTTTTTTTTTTTTGAGATGGAGTT... | TTTTTTTTTTTTTTTGTATTTTTAGTAAAGAGGGGTTTCACCAGGTTATCCAGGCTGGTCTCGAACTCTGACCTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTATTGGGATTACAGGCATGAGCCACCGCACCGGCCAAAAATGTATTATTATTTTAAAAATAGAGACAGGGTTCCCCTATGTTGGCCAGGCTGGTCTTAAACTCGTGGACTCAACCAATCCTTCTGCCTCGGTCTTCCAAAGCGTTAGGATTACAGGCACGAGCCATCCTGCCCAGCCAAGATTCAGCTCTTTTTTTTTTTTTTTGAGATGGAGTT... | benign | 275,809 |
Considering the genetic mutation at chromosome 17, position 43100585, impacting BRCA1 (BRCA1 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTTTGTATTTTTAGTAAAGAGGGGTTTCACCAGGTTATCCAGGCTGGTCTCGAACTCTGACCTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTATTGGGATTACAGGCATGAGCCACCGCACCGGCCAAAAATGTATTATTATTTTAAAAATAGAGACAGGGTTCCCCTATGTTGGCCAGGCTGGTCTTAAACTCGTGGACTCAACCAATCCTTCTGCCTCGGTCTTCCAAAGCGTTAGGATTACAGGCACGAGCCATCCTGCCCAGCCAAGATTCAGCTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTT... | TTTTGTATTTTTAGTAAAGAGGGGTTTCACCAGGTTATCCAGGCTGGTCTCGAACTCTGACCTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTATTGGGATTACAGGCATGAGCCACCGCACCGGCCAAAAATGTATTATTATTTTAAAAATAGAGACAGGGTTCCCCTATGTTGGCCAGGCTGGTCTTAAACTCGTGGACTCAACCAATCCTTCTGCCTCGGTCTTCCAAAGCGTTAGGATTACAGGCACGAGCCATCCTGCCCAGCCAAGATTCAGCTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTT... | benign | 275,810 |
For chromosome 17, position 43100609, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TTTCACCAGGTTATCCAGGCTGGTCTCGAACTCTGACCTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTATTGGGATTACAGGCATGAGCCACCGCACCGGCCAAAAATGTATTATTATTTTAAAAATAGAGACAGGGTTCCCCTATGTTGGCCAGGCTGGTCTTAAACTCGTGGACTCAACCAATCCTTCTGCCTCGGTCTTCCAAAGCGTTAGGATTACAGGCACGAGCCATCCTGCCCAGCCAAGATTCAGCTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGCAATGGTGC... | TTTCACCAGGTTATCCAGGCTGGTCTCGAACTCTGACCTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTATTGGGATTACAGGCATGAGCCACCGCACCGGCCAAAAATGTATTATTATTTTAAAAATAGAGACAGGGTTCCCCTATGTTGGCCAGGCTGGTCTTAAACTCGTGGACTCAACCAATCCTTCTGCCTCGGTCTTCCAAAGCGTTAGGATTACAGGCACGAGCCATCCTGCCCAGCCAAGATTCAGCTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGCAATGGTGC... | benign | 275,814 |
Is the genetic variant on chromosome 17, position 43100617, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GGTTATCCAGGCTGGTCTCGAACTCTGACCTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTATTGGGATTACAGGCATGAGCCACCGCACCGGCCAAAAATGTATTATTATTTTAAAAATAGAGACAGGGTTCCCCTATGTTGGCCAGGCTGGTCTTAAACTCGTGGACTCAACCAATCCTTCTGCCTCGGTCTTCCAAAGCGTTAGGATTACAGGCACGAGCCATCCTGCCCAGCCAAGATTCAGCTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGCAATGGTGCGATCTTGG... | GGTTATCCAGGCTGGTCTCGAACTCTGACCTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTATTGGGATTACAGGCATGAGCCACCGCACCGGCCAAAAATGTATTATTATTTTAAAAATAGAGACAGGGTTCCCCTATGTTGGCCAGGCTGGTCTTAAACTCGTGGACTCAACCAATCCTTCTGCCTCGGTCTTCCAAAGCGTTAGGATTACAGGCACGAGCCATCCTGCCCAGCCAAGATTCAGCTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGCAATGGTGCGATCTTGG... | benign | 275,815 |
The chromosome 17, position 43100689 genetic variant in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | benign | ACAGGCATGAGCCACCGCACCGGCCAAAAATGTATTATTATTTTAAAAATAGAGACAGGGTTCCCCTATGTTGGCCAGGCTGGTCTTAAACTCGTGGACTCAACCAATCCTTCTGCCTCGGTCTTCCAAAGCGTTAGGATTACAGGCACGAGCCATCCTGCCCAGCCAAGATTCAGCTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG... | ACAGGCATGAGCCACCGCACCGGCCAAAAATGTATTATTATTTTAAAAATAGAGACAGGGTTCCCCTATGTTGGCCAGGCTGGTCTTAAACTCGTGGACTCAACCAATCCTTCTGCCTCGGTCTTCCAAAGCGTTAGGATTACAGGCACGAGCCATCCTGCCCAGCCAAGATTCAGCTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCTAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG... | benign | 275,816 |
Is the variant located on chromosome 17 at position 43102948, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TTTTGTATTTTTAGTAGAGACAGGTTTCGCCATGTTGGCCAGGCTGGTCTCACACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGCCATGAGCCACCGTGCCTGGCCAATAACATTTTTAAAAAGGATAAATGATGACAATAAAACCCCAGCACTCCTAAGAACATTTAGTATAGGAACGAGTATTTAAAAGCCCAACATTACTTTTTTTTTCCTTCCTTTTTAGCTCTATATCTTTTGAAAAATGAATGCTGGTACTGTGAGAACTACTTTTATTTTATTTGTATTTTTTTAGAC... | TTTTGTATTTTTAGTAGAGACAGGTTTCGCCATGTTGGCCAGGCTGGTCTCACACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGCCATGAGCCACCGTGCCTGGCCAATAACATTTTTAAAAAGGATAAATGATGACAATAAAACCCCAGCACTCCTAAGAACATTTAGTATAGGAACGAGTATTTAAAAGCCCAACATTACTTTTTTTTTCCTTCCTTTTTAGCTCTATATCTTTTGAAAAATGAATGCTGGTACTGTGAGAACTACTTTTATTTTATTTGTATTTTTTTAGAC... | benign | 275,830 |
Determine if the mutation at chromosome 17, position 43104057 in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GCTCCAGCCTCAGCCTCCCAAGTAGCTAGGACCACAGGTGCATACCACCACGCCCAGCTAAGTTTTTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTC... | GCTCCAGCCTCAGCCTCCCAAGTAGCTAGGACCACAGGTGCATACCACCACGCCCAGCTAAGTTTTTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTC... | benign | 275,835 |
Regarding the variant at chromosome 17 and position 43104058, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CTCCAGCCTCAGCCTCCCAAGTAGCTAGGACCACAGGTGCATACCACCACGCCCAGCTAAGTTTTTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCC... | CTCCAGCCTCAGCCTCCCAAGTAGCTAGGACCACAGGTGCATACCACCACGCCCAGCTAAGTTTTTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCC... | benign | 275,836 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43104072: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TCCCAAGTAGCTAGGACCACAGGTGCATACCACCACGCCCAGCTAAGTTTTTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGAT... | TCCCAAGTAGCTAGGACCACAGGTGCATACCACCACGCCCAGCTAAGTTTTTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGAT... | benign | 275,837 |
Clinical significance of chromosome 17, position 43104083, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | benign | TAGGACCACAGGTGCATACCACCACGCCCAGCTAAGTTTTTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA... | TAGGACCACAGGTGCATACCACCACGCCCAGCTAAGTTTTTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA... | benign | 275,838 |
Is the chromosome 17, position 43104083 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TAGGACCACAGGTGCATACCACCACGCCCAGCTAAGTTTTTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA... | TAGGACCACAGGTGCATACCACCACGCCCAGCTAAGTTTTTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA... | benign | 275,839 |
For chromosome 17, position 43104101, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CCACCACGCCCAGCTAAGTTTTTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTT... | CCACCACGCCCAGCTAAGTTTTTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTT... | benign | 275,840 |
Determine whether the variant at chromosome 17, position 43104104, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CCACGCCCAGCTAAGTTTTTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTT... | CCACGCCCAGCTAAGTTTTTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTT... | benign | 275,842 |
The genetic variant at chromosome 17, position 43104115, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | benign | TAAGTTTTTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTC... | TAAGTTTTTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTC... | benign | 275,847 |
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43104122—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | TTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT... | TTTTGTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT... | pathogenic | 275,853 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43104131: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGG... | TTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGG... | pathogenic | 275,856 |
Is the chromosome 17, position 43104131 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGG... | TTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGG... | pathogenic | 275,857 |
Chromosome 17, position 43104131, gene BRCA1 (BRCA1 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGG... | TTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGG... | pathogenic | 275,858 |
Variant chromosome 17, position 43104144, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTG... | AGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTG... | pathogenic | 275,865 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43104144 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTG... | AGTCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTG... | pathogenic | 275,866 |
Benign or pathogenic: chromosome 17, position 43104146, gene BRCA1 (BRCA1 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGC... | TCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGC... | pathogenic | 275,867 |
Clinically, how would you classify the variant at chromosome 17, position 43104146, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGC... | TCTCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGC... | pathogenic | 275,868 |
Is the genetic mutation found on chromosome 17 at position 43104148, 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'] | TCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGC... | TCACTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGC... | pathogenic | 275,870 |
Classify the chromosome 17 variant at position 43104151 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_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAAT... | CTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAAT... | pathogenic | 275,872 |
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43104151—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAAT... | CTCTGTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAAT... | pathogenic | 275,873 |
Evaluate if the mutation on chromosome 17 at position 43104155 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCG... | GTCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCG... | pathogenic | 275,875 |
Is the genetic variant on chromosome 17, position 43104156, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | 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'] | TCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGG... | TCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGG... | pathogenic | 275,876 |
Chromosome 17, position 43104156, 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'] | TCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGG... | TCGCCCAGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGG... | pathogenic | 275,877 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43104162: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT... | AGGCTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT... | pathogenic | 275,879 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43104165, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Ovarian_neoplasm'] | CTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA... | CTGGATCGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA... | pathogenic | 275,881 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43104172: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_4'] | GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCG... | GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCG... | pathogenic | 275,885 |
Is the chromosome 17, position 43104176 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | TGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTC... | TGGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTC... | pathogenic | 275,889 |
For chromosome 17, position 43104177, 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'] | GGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCT... | GGCGGGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCT... | pathogenic | 275,890 |
Evaluate this variant at chromosome 17, position 43104186, 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'] | TCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAA... | TCGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAA... | pathogenic | 275,892 |
Determine whether the variant at chromosome 17, position 43104187, 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'] | CGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAG... | CGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAG... | pathogenic | 275,894 |
Variant at chromosome position 43104188, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | GGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGT... | GGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGT... | pathogenic | 275,896 |
Is chromosome 17, position 43104190, gene BRCA1 (BRCA1 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGA... | CTCACTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGA... | pathogenic | 275,897 |
Assess the variant on chromosome 17, position 43104194, 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'] | CTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCT... | CTGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCT... | pathogenic | 275,902 |
Classify the chromosome 17 variant at position 43104195 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTC... | TGCAAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTC... | pathogenic | 275,903 |
Is the genetic mutation found on chromosome 17 at position 43104198, 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'] | AAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCAT... | AAGCTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCAT... | pathogenic | 275,905 |
A genetic alteration at chromosome 17, position 43104201, 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | CTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCT... | CTCCACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCT... | pathogenic | 275,907 |
Mutation found at chromosome 17 position 43104205, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGC... | ACCTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGC... | pathogenic | 275,908 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43104216—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAG... | TCATGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAG... | pathogenic | 275,912 |
The mutation impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17 at position 43104219: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Gastric_cancer'] | TGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTG... | TGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTG... | pathogenic | 275,913 |
For chromosome 17, position 43104220, 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', 'Ovarian_neoplasm'] | GCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGG... | GCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGG... | pathogenic | 275,914 |
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