question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43074350—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | TCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAA... | TCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAA... | pathogenic | 272,842 |
Is the genetic mutation found on chromosome 17 at position 43074351, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Inherited_ovarian_cancer_(without_breast_cancer)'] | CGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAAT... | CGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAAT... | pathogenic | 272,843 |
Classify the chromosome 17 variant at position 43074355 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCG... | CGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCG... | pathogenic | 272,845 |
Variant chromosome 17, position 43074359, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | CCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGAT... | CCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGAT... | pathogenic | 272,848 |
Mutation at chromosome 17, position 43074373, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAA... | GTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAA... | pathogenic | 272,853 |
Regarding the variant found on chromosome 17 at position 43074374 in gene BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAA... | TTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAA... | pathogenic | 272,854 |
Determine whether the variant at chromosome 17, position 43074379, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_4'] | CTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCT... | CTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCT... | pathogenic | 272,856 |
Classify the chromosome 17 variant at position 43074382 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | AGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCC... | AGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCC... | pathogenic | 272,858 |
Evaluate the clinical significance of the mutation at chromosome 17, position 43074385 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | CGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCC... | CGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCC... | pathogenic | 272,860 |
Benign or pathogenic: chromosome 17, position 43074389, gene BRCA1 (BRCA1 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGG... | ATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGG... | pathogenic | 272,863 |
Located at chromosome 17 position 43074393, the variant affecting gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCA... | CGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCA... | pathogenic | 272,866 |
Mutation found at chromosome 17 position 43074394, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAA... | GCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAA... | pathogenic | 272,868 |
Does the genetic variant at chromosome 17, position 43074395, impacting gene BRCA1 (BRCA1 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAG... | CCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAG... | pathogenic | 272,869 |
Regarding the variant at chromosome 17 and position 43074396, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | CATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGC... | CATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGC... | pathogenic | 272,870 |
Evaluate this variant at chromosome 17, position 43074409, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCT... | CCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCT... | pathogenic | 272,877 |
Chromosome 17, position 43074410, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTC... | CTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTC... | pathogenic | 272,878 |
Is the genetic change at chromosome 17, position 43074412, within gene BRCA1 (BRCA1 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAG... | GGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAG... | pathogenic | 272,880 |
Variant on chromosome 17, at position 43074414, affecting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCC... | GCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCC... | pathogenic | 272,881 |
A mutation at chromosome position 43074415 on chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCT... | CAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCT... | pathogenic | 272,882 |
Clinically, how would you classify the variant at chromosome 17, position 43074420, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGA... | AGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGA... | pathogenic | 272,883 |
Evaluate this variant at chromosome 17, position 43074430, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['BRCA1-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA... | TCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA... | pathogenic | 272,887 |
Is the genetic variant on chromosome 17, position 43074433, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA... | GTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA... | pathogenic | 272,889 |
For chromosome 17, position 43074434, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC... | TCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC... | pathogenic | 272,890 |
Variant on chromosome 17, at position 43074435, affecting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA... | CTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA... | pathogenic | 272,891 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43074436: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG... | TCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG... | pathogenic | 272,892 |
Variant at chromosome 17, position 43074470, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | AGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTT... | AGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTT... | pathogenic | 272,905 |
A mutation at chromosome position 43074471 on chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTT... | GAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTT... | pathogenic | 272,907 |
Mutation at chromosome 17, position 43074471, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['BRCA1-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | GAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTT... | GAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTT... | pathogenic | 272,908 |
Is the genetic mutation found on chromosome 17 at position 43074473, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTA... | AGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTA... | pathogenic | 272,910 |
Does the variant on chromosome 17 at location 43074477 affecting gene BRCA1 (BRCA1 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAG... | TCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAG... | pathogenic | 272,911 |
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43074480—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGA... | CGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGA... | pathogenic | 272,914 |
Clinical classification of chromosome 17, position 43074481, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | GGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGAC... | GGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGAC... | pathogenic | 272,915 |
For chromosome 17, position 43074489, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTC... | ATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTC... | pathogenic | 272,921 |
Chromosome 17, position 43074490, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCT... | TCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCT... | pathogenic | 272,922 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome 17, position 43074494—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCAT... | GGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCAT... | pathogenic | 272,925 |
Regarding the variant at chromosome 17 and position 43074512, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | CAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCT... | CAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCT... | pathogenic | 272,932 |
Variant chromosome 17, position 43074719, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | benign | TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATT... | TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATT... | benign | 272,945 |
Variant on chromosome 17, at position 43074920, affecting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTA... | CTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTA... | benign | 272,947 |
Is the variant located on chromosome 17 at position 43075066, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAG... | TCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAG... | benign | 272,948 |
Regarding the variant at chromosome 17 and position 43076486, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGT... | GGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGT... | pathogenic | 272,955 |
A genetic variant at chromosome 17, position 43076488, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... | pathogenic | 272,961 |
Regarding the variant found on chromosome 17 at position 43076488 in gene BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... | GTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTT... | pathogenic | 272,962 |
Is the genetic change at chromosome 17, position 43076497, within gene BRCA1 (BRCA1 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGG... | ATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGG... | pathogenic | 272,965 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43076504, gene BRCA1 (BRCA1 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAG... | AGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAG... | pathogenic | 272,968 |
Assess the variant on chromosome 17, position 43076504, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAG... | AGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAG... | pathogenic | 272,969 |
Determine if the mutation at chromosome 17, position 43076508 in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGG... | TCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGG... | pathogenic | 272,970 |
Considering the variant on chromosome 17, location 43076514, involving gene BRCA1 (BRCA1 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGG... | AGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGG... | pathogenic | 272,971 |
Mutation at chromosome 17, position 43076515, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGT... | GCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGT... | pathogenic | 272,972 |
Is the genetic mutation found on chromosome 17 at position 43076516, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | CAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTG... | CAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTG... | pathogenic | 272,973 |
The chromosome 17, position 43076521 genetic variant in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGG... | GTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGG... | pathogenic | 272,975 |
Does the chromosome 17 mutation at position 43076524 within gene BRCA1 (BRCA1 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | CATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGC... | CATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGC... | pathogenic | 272,976 |
Does the chromosome 17 mutation at position 43076536 within gene BRCA1 (BRCA1 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAG... | ATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAG... | pathogenic | 272,978 |
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43076544—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGG... | ATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGG... | pathogenic | 272,980 |
Considering the genetic mutation at chromosome 17, position 43076554, impacting BRCA1 (BRCA1 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGG... | TTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGG... | pathogenic | 272,985 |
Evaluate if the mutation on chromosome 17 at position 43076554 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGG... | TTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGG... | pathogenic | 272,986 |
Clinical significance of chromosome 17, position 43076555, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGC... | TTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGC... | pathogenic | 272,987 |
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43076557—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAG... | AGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAG... | pathogenic | 272,990 |
Evaluate the clinical significance of the mutation at chromosome 17, position 43076559 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGA... | AAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGA... | pathogenic | 272,992 |
Determine whether the variant at chromosome 17, position 43076561, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAA... | GGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAA... | pathogenic | 272,993 |
For chromosome 17, position 43076569, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTG... | CCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTG... | pathogenic | 272,995 |
Does the chromosome 17 mutation at position 43076570 within gene BRCA1 (BRCA1 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGA... | CTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGA... | pathogenic | 272,997 |
Evaluate this variant at chromosome 17, position 43076573, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACC... | GAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACC... | pathogenic | 273,000 |
Assess the variant on chromosome 17, position 43076574, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCT... | AAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCT... | pathogenic | 273,001 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43076575 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTG... | AAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTG... | pathogenic | 273,002 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43076577, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGG... | GATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGG... | pathogenic | 273,003 |
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43076578—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGA... | ATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGA... | pathogenic | 273,004 |
A genetic alteration at chromosome 17, position 43076579, in gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAG... | TAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAG... | pathogenic | 273,005 |
Chromosome 17, position 43076579, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAG... | TAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAG... | pathogenic | 273,006 |
Variant at chromosome position 43076579, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAG... | TAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAG... | pathogenic | 273,007 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome 17, position 43076580—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | AAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGA... | AAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGA... | pathogenic | 273,008 |
For chromosome 17, position 43076580, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGA... | AAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGA... | pathogenic | 273,010 |
Clinical significance of chromosome 17, position 43076582, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACA... | ATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACA... | pathogenic | 273,011 |
Chromosome 17, position 43076583, gene BRCA1 (BRCA1 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAG... | TGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAG... | pathogenic | 273,014 |
Variant at chromosome 17, position 43076584, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGA... | GGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGA... | pathogenic | 273,016 |
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43076585—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAG... | GAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAG... | pathogenic | 273,017 |
Mutation found at chromosome 17 position 43076592, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAG... | AAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAG... | pathogenic | 273,019 |
Variant at chromosome position 43076598, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | ATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCC... | ATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCC... | pathogenic | 273,021 |
Assess the variant on chromosome 17, position 43077335, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | AATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCA... | AATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCA... | benign | 273,034 |
A genetic variant at chromosome 17, position 43077743, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAG... | TGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAG... | benign | 273,036 |
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43077760—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGAT... | GCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGAT... | benign | 273,039 |
A genetic variant at chromosome 17, position 43078088, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGA... | CCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGA... | benign | 273,045 |
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43080890—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AATTGATAAAGGGTAATGTGCAAGTTCCAAGGAACCATATCAAACGGAATTAACCATTGGAAAGAGTTAAAAAAGTGGCCAGGTGATGTGGCTCACGCCTACAATCCCAGCACTTTGAGAGGCCGAGGTGGACAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCGGACATTGTAATGAGCCGAAATCACACCATTGCACTCCAGCCTGGGCAACAAAAGT... | AATTGATAAAGGGTAATGTGCAAGTTCCAAGGAACCATATCAAACGGAATTAACCATTGGAAAGAGTTAAAAAAGTGGCCAGGTGATGTGGCTCACGCCTACAATCCCAGCACTTTGAGAGGCCGAGGTGGACAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCCGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCGGACATTGTAATGAGCCGAAATCACACCATTGCACTCCAGCCTGGGCAACAAAAGT... | benign | 273,068 |
Chromosome 17, position 43082402, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCCGGCTAATTTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGG... | CCCGGCTAATTTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGG... | pathogenic | 273,083 |
Clinically, how would you classify the variant at chromosome 17, position 43082404, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CGGCTAATTTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTG... | CGGCTAATTTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTG... | pathogenic | 273,087 |
A genetic variant at chromosome 17, position 43082412, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGC... | TTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGC... | pathogenic | 273,091 |
Evaluate this variant at chromosome 17, position 43082412, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGC... | TTTTTGTAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGC... | pathogenic | 273,092 |
Regarding the variant at chromosome 17 and position 43082418, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAG... | TAGTTTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAG... | pathogenic | 273,094 |
Is the chromosome 17, position 43082422 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCC... | TTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCC... | pathogenic | 273,096 |
Regarding the variant at chromosome 17 and position 43082422, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCC... | TTTAGTAGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCC... | pathogenic | 273,097 |
Regarding the variant at chromosome 17 and position 43082428, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTAC... | AGAGATGTGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTAC... | pathogenic | 273,100 |
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43082439—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTA... | TTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTA... | pathogenic | 273,106 |
Mutation found at chromosome 17 position 43082439, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTA... | TTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTA... | pathogenic | 273,107 |
A mutation at chromosome position 43082450 on chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGA... | GGTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGA... | pathogenic | 273,111 |
Evaluate if the mutation on chromosome 17 at position 43082451 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGAT... | GTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGAT... | pathogenic | 273,112 |
Assess the variant on chromosome 17, position 43082451, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGAT... | GTCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGAT... | pathogenic | 273,113 |
A mutation at chromosome position 43082452 on chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | TCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATC... | TCAGGCTGGTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATC... | pathogenic | 273,114 |
Determine whether the variant at chromosome 17, position 43082460, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGG... | GTCTCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGG... | pathogenic | 273,119 |
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43082463—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGG... | TCGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGG... | pathogenic | 273,120 |
A genetic variant on chromosome 17, position 43082464, affects the gene BRCA1 (BRCA1 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGT... | CGAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGT... | pathogenic | 273,121 |
Assess the variant on chromosome 17, position 43082465, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | GAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTC... | GAGCTCCCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTC... | pathogenic | 273,122 |
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