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 |
|---|---|---|---|---|---|
A mutation at chromosome position 43082471 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'] | CCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGG... | CCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGG... | pathogenic | 273,123 |
A genetic variant at chromosome 17, position 43082471, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGG... | CCGACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGG... | pathogenic | 273,124 |
Considering the variant on chromosome 17, location 43082474, 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'] | ACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTG... | ACCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTG... | pathogenic | 273,125 |
Assess the variant on chromosome 17, position 43082475, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | CCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGC... | CCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGC... | pathogenic | 273,127 |
Variant on chromosome 17, at position 43082475, 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'] | CCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGC... | CCTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGC... | pathogenic | 273,128 |
The mutation impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17 at position 43082476: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCA... | CTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCA... | pathogenic | 273,129 |
A genetic variant on chromosome 17, position 43082476, 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'] | CTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCA... | CTCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCA... | pathogenic | 273,130 |
Evaluate the clinical significance of the mutation at chromosome 17, position 43082477 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', 'Familial_cancer_of_breast'] | TCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAG... | TCAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAG... | pathogenic | 273,131 |
Mutation at chromosome 17, position 43082478, 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'] | CAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGT... | CAGGTGATTCGCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGT... | pathogenic | 273,132 |
Is the variant located on chromosome 17 at position 43082494, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | CTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCC... | CTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCC... | pathogenic | 273,136 |
Chromosome 17, position 43082494, 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'] | CTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCC... | CTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCC... | pathogenic | 273,137 |
Classify the chromosome 17 variant at position 43082502 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | CCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCT... | CCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCT... | pathogenic | 273,140 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43082508 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCT... | GTGCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCT... | pathogenic | 273,145 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome 17, position 43082510—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', 'Hereditary_cancer-predisposing_syndrome'] | GCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTG... | GCTGGGGTTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTG... | pathogenic | 273,147 |
Regarding the variant at chromosome 17 and position 43082517, 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'] | TTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACA... | TTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACA... | pathogenic | 273,149 |
Classify the chromosome 17 variant at position 43082517 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', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACA... | TTACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACA... | pathogenic | 273,150 |
Does the chromosome 17 mutation at position 43082518 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | TACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAG... | TACAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAG... | pathogenic | 273,152 |
Determine whether the variant at chromosome 17, position 43082520, 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'] | CAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAG... | CAGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAG... | pathogenic | 273,154 |
Variant chromosome 17, position 43082521, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGC... | AGGCGTGAGCCACCGTACCCGGCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGC... | pathogenic | 273,155 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43082542—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGA... | GCAACAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGA... | pathogenic | 273,163 |
Determine whether the variant at chromosome 17, position 43082546, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer'] | CAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCT... | CAATATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCT... | pathogenic | 273,166 |
Evaluate this variant at chromosome 17, position 43082550, 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_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | ATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGG... | ATTCTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGG... | pathogenic | 273,169 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43082553, gene BRCA1 (BRCA1 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCG... | CTTTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCG... | pathogenic | 273,171 |
Assess the variant on chromosome 17, position 43082555, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGG... | TTTTACTAGAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGG... | pathogenic | 273,172 |
A genetic variant at chromosome 17, position 43082563, 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'] | GAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGG... | GAAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGG... | pathogenic | 273,175 |
Is the chromosome 17, position 43082564 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | AAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGC... | AAGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGC... | pathogenic | 273,177 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome 17, position 43082565—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCT... | AGTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCT... | pathogenic | 273,178 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43082566, gene BRCA1 (BRCA1 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTC... | GTTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTC... | pathogenic | 273,179 |
A mutation at chromosome position 43082567 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'] | TTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCA... | TTCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCA... | pathogenic | 273,180 |
Chromosome 17, position 43082568, 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_cancer-predisposing_syndrome'] | TCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAA... | TCTGGCCAGGTGCCATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGAGAGGACTGCTTGAGTCCAGGAGTTTGAGACCAACTTGGGCAACATAGGGAGACCTTGTCTCTACAAAAAATAAAAAAAAAAATTAGCTGGGTATGGTGGTGGACGCCTATAGTCCCAGCTACTTGGGAGGCTAAGGCAGGAGGATCGCTTGAGGAGGTCGAGAGGCTGCAGTGAGCTGTGATTATGCCACTGCCCTCCAGCTTGGGCAACAGAGCAAGACCCTCTCTATAAGGTGAGGCTCAGGTCGGGGAGGATGGCTCAA... | pathogenic | 273,181 |
Is the chromosome 17, position 43083162 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | AAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGAC... | AAAGTCACACAATAATAACATTTTAAATCTTACACATTATAATTGAAAGTCTAGTCTGTGTTTAGACTGAAGATGGTGAAAGTACCCTAAAGAAGAGTATTATACTGGGGATGGGACTCTGATCTCTCATTATCTGAGAGATGAACTAAATGAAGATAGTTACAAAGAAAGCATTTAAGGAAATACATTTTGAAGCACTGCCATAGCAACAGAGTTTCTAGCTAGCTTCTTTATCCAAGAGCTACTGTTTCTTCCTGAACACAAAAATACTGCAAGGCACAACTGGGGACCAAAGCCACTGTTCTGTATAAGTAGCAGAC... | benign | 273,188 |
Regarding the variant at chromosome 17 and position 43084031, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAG... | TCTCCCTATAAATCAGAAGCACATTAAATAGGTCTTTGTGATGTGACACCAGTGTTATAAGGAATATGTCTGAGTACTTTTTCATAGCTTTCTGAAATTATGGGGTTGCCTGTCACCAATTTCTCCCATTCCACTTAGCTTCCAATAGAGCAAGAGCTATGTTGTATACCATGTATCTTCCATGGGCTCCCCATAGCATCTACTTGTTGTAGGTACTCAGATGACAACATGAATGACTGCCTTGGGTCCCTCTGACTGGTATATTAGTTGTGAGCAGGGACAAGAACCAAGGCTCCATAATTACCCATGTGCTGAGCAAG... | benign | 273,192 |
For chromosome 17, position 43085676, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCT... | TGTCCACCTAGAGATCATTAGCAAGGACCTGTGAGAGGGAAGGATCCAACAGAAAGAGCCCTGAGAAAGCCTGTAAGGATAGTTACTGTTTTTAAAATAATGAGTTCTTTTTGCTTATGGGCTCCTGTTGTTTATTGGTCCATTTCAAAGAAGAGTGTGCTAAGTCCAAGTATTTGATAAACAAAGAATTTAGGTATGTAAGGAGTTTTCCAAAATATCCTTCTTAAGAATTTATTTTATTTATTTATTTTTTTTGAGACAGTCTTGCTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCT... | benign | 273,197 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43086109: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTG... | CACTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGTTCACTGCAAGCTCCGCCTCCCAGGTTCAAGCCATTCTTCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAAATGGTGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCACATGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTG... | benign | 273,200 |
Variant at chromosome 17, position 43087898, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | ATATAAAACCTTCCCATAAAACATGTGTATTTAATGAGTTAAAACTATTTCTAATGTTCCTACTACTACATAATAAGCCTAATCCAGATACAAGCTGAAGTCTTAGCACAAATAGTGGCTTTATCATGCTAGTTTTGTCGACATGTTGTGAATATTTTCAAATATACAGAAAACTTGAAGCAACTTTGCAATGAGTGTTTATATATCTACTACTTAGAATCTATAATTAACATTTCCTATATTTATTTTATCACATACATACACACACACACACACACACACACACACACACACACACAGAAGTCCCCACCAATAATCCA... | ATATAAAACCTTCCCATAAAACATGTGTATTTAATGAGTTAAAACTATTTCTAATGTTCCTACTACTACATAATAAGCCTAATCCAGATACAAGCTGAAGTCTTAGCACAAATAGTGGCTTTATCATGCTAGTTTTGTCGACATGTTGTGAATATTTTCAAATATACAGAAAACTTGAAGCAACTTTGCAATGAGTGTTTATATATCTACTACTTAGAATCTATAATTAACATTTCCTATATTTATTTTATCACATACATACACACACACACACACACACACACACACACACACACACAGAAGTCCCCACCAATAATCCA... | benign | 273,207 |
A genetic variant on chromosome 17, position 43089550, affects the gene BRCA1 (BRCA1 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AAAATACAAAGTTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCATGAACCCGGGAGGCAGAGGATGCGGTGAGCCAAGGTCACACCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAGAAAAAAAAAAAAAAAAAGAAAAAAGAATTTTAATGATCCAGTAAAAGCTAGATTATAATGCACAGAATTATCTGGATTTCTTGTTTTTGAGACAGGGTCTCACCATATCACCCAGGATGGAGTGCAGTGGCACCATCATGGCTCACCACGGCCTCAA... | AAAATACAAAGTTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCATGAACCCGGGAGGCAGAGGATGCGGTGAGCCAAGGTCACACCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAGAAAAAAAAAAAAAAAAAGAAAAAAGAATTTTAATGATCCAGTAAAAGCTAGATTATAATGCACAGAATTATCTGGATTTCTTGTTTTTGAGACAGGGTCTCACCATATCACCCAGGATGGAGTGCAGTGGCACCATCATGGCTCACCACGGCCTCAA... | benign | 273,217 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43089551, gene BRCA1 (BRCA1 DNA repair associated). What disease(s) is it linked to if pathogenic? | benign | AAATACAAAGTTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCATGAACCCGGGAGGCAGAGGATGCGGTGAGCCAAGGTCACACCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAGAAAAAAAAAAAAAAAAAGAAAAAAGAATTTTAATGATCCAGTAAAAGCTAGATTATAATGCACAGAATTATCTGGATTTCTTGTTTTTGAGACAGGGTCTCACCATATCACCCAGGATGGAGTGCAGTGGCACCATCATGGCTCACCACGGCCTCAAC... | AAATACAAAGTTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCATGAACCCGGGAGGCAGAGGATGCGGTGAGCCAAGGTCACACCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAGAAAAAAAAAAAAAAAAAGAAAAAAGAATTTTAATGATCCAGTAAAAGCTAGATTATAATGCACAGAATTATCTGGATTTCTTGTTTTTGAGACAGGGTCTCACCATATCACCCAGGATGGAGTGCAGTGGCACCATCATGGCTCACCACGGCCTCAAC... | benign | 273,218 |
Chromosome 17, position 43090058, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CCAAAGTGCTGGGATTACAGGTGTAAGCCACTGTGCCTAGCTTCCTGGATATATTTTAAAGATAAAGTATATACAAGCACCCCTGTGCACACACAGGAATACTAAAAGAATATACACCAATAAATTGCTAACCATTTCTGGATAACACAAATTACAATTAACTTATCATTTTAATCATTTTAAGTGTACAGTTCAGTGGCATTATTTTCACACTGTTGTGTTACCATTGCCACTATCTATCTCCAGAACTTTTTCATCATCCCAAACTGAAATCTGCACTCATCAAACAGTAACTCCCCATTTCCCCCTCCCCAAGTCCC... | CCAAAGTGCTGGGATTACAGGTGTAAGCCACTGTGCCTAGCTTCCTGGATATATTTTAAAGATAAAGTATATACAAGCACCCCTGTGCACACACAGGAATACTAAAAGAATATACACCAATAAATTGCTAACCATTTCTGGATAACACAAATTACAATTAACTTATCATTTTAATCATTTTAAGTGTACAGTTCAGTGGCATTATTTTCACACTGTTGTGTTACCATTGCCACTATCTATCTCCAGAACTTTTTCATCATCCCAAACTGAAATCTGCACTCATCAAACAGTAACTCCCCATTTCCCCCTCCCCAAGTCCC... | benign | 273,219 |
Does the genetic variant at chromosome 17, position 43090063, impacting gene BRCA1 (BRCA1 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GTGCTGGGATTACAGGTGTAAGCCACTGTGCCTAGCTTCCTGGATATATTTTAAAGATAAAGTATATACAAGCACCCCTGTGCACACACAGGAATACTAAAAGAATATACACCAATAAATTGCTAACCATTTCTGGATAACACAAATTACAATTAACTTATCATTTTAATCATTTTAAGTGTACAGTTCAGTGGCATTATTTTCACACTGTTGTGTTACCATTGCCACTATCTATCTCCAGAACTTTTTCATCATCCCAAACTGAAATCTGCACTCATCAAACAGTAACTCCCCATTTCCCCCTCCCCAAGTCCCTAGTA... | GTGCTGGGATTACAGGTGTAAGCCACTGTGCCTAGCTTCCTGGATATATTTTAAAGATAAAGTATATACAAGCACCCCTGTGCACACACAGGAATACTAAAAGAATATACACCAATAAATTGCTAACCATTTCTGGATAACACAAATTACAATTAACTTATCATTTTAATCATTTTAAGTGTACAGTTCAGTGGCATTATTTTCACACTGTTGTGTTACCATTGCCACTATCTATCTCCAGAACTTTTTCATCATCCCAAACTGAAATCTGCACTCATCAAACAGTAACTCCCCATTTCCCCCTCCCCAAGTCCCTAGTA... | benign | 273,220 |
Evaluate the clinical significance of the mutation at chromosome 17, position 43090064 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TGCTGGGATTACAGGTGTAAGCCACTGTGCCTAGCTTCCTGGATATATTTTAAAGATAAAGTATATACAAGCACCCCTGTGCACACACAGGAATACTAAAAGAATATACACCAATAAATTGCTAACCATTTCTGGATAACACAAATTACAATTAACTTATCATTTTAATCATTTTAAGTGTACAGTTCAGTGGCATTATTTTCACACTGTTGTGTTACCATTGCCACTATCTATCTCCAGAACTTTTTCATCATCCCAAACTGAAATCTGCACTCATCAAACAGTAACTCCCCATTTCCCCCTCCCCAAGTCCCTAGTAA... | TGCTGGGATTACAGGTGTAAGCCACTGTGCCTAGCTTCCTGGATATATTTTAAAGATAAAGTATATACAAGCACCCCTGTGCACACACAGGAATACTAAAAGAATATACACCAATAAATTGCTAACCATTTCTGGATAACACAAATTACAATTAACTTATCATTTTAATCATTTTAAGTGTACAGTTCAGTGGCATTATTTTCACACTGTTGTGTTACCATTGCCACTATCTATCTCCAGAACTTTTTCATCATCCCAAACTGAAATCTGCACTCATCAAACAGTAACTCCCCATTTCCCCCTCCCCAAGTCCCTAGTAA... | benign | 273,221 |
The chromosome 17, position 43090737 genetic variant in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | benign | ATTTAAGATTTAGGTGGGAAAAAGAAGCCACAGCAGGATGAATCGAGGGGGTCTGAACAGCTTCATTTTAAGAATGTGCCTACGGCAGGTCAGAGAACATAAGCAAACTGTCTAAGATCACATAGCCCAGTACAGAACTCTCACCAATATTATTGCCAGCAACTGCTGTGTGTGTATTCTGCATAGAACCCTGTGCTGGGAATACAAAGAACCAACCTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCA... | ATTTAAGATTTAGGTGGGAAAAAGAAGCCACAGCAGGATGAATCGAGGGGGTCTGAACAGCTTCATTTTAAGAATGTGCCTACGGCAGGTCAGAGAACATAAGCAAACTGTCTAAGATCACATAGCCCAGTACAGAACTCTCACCAATATTATTGCCAGCAACTGCTGTGTGTGTATTCTGCATAGAACCCTGTGCTGGGAATACAAAGAACCAACCTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCA... | benign | 273,225 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43090905: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TGTGTGTATTCTGCATAGAACCCTGTGCTGGGAATACAAAGAACCAACCTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGG... | TGTGTGTATTCTGCATAGAACCCTGTGCTGGGAATACAAAGAACCAACCTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGG... | benign | 273,227 |
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43090921—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AGAACCCTGTGCTGGGAATACAAAGAACCAACCTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACC... | AGAACCCTGTGCTGGGAATACAAAGAACCAACCTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACC... | benign | 273,229 |
Does the chromosome 17 mutation at position 43090922 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAACCCTGTGCTGGGAATACAAAGAACCAACCTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCT... | GAACCCTGTGCTGGGAATACAAAGAACCAACCTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCT... | pathogenic | 273,230 |
Assess the variant on chromosome 17, position 43090925, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CCCTGTGCTGGGAATACAAAGAACCAACCTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTA... | CCCTGTGCTGGGAATACAAAGAACCAACCTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTA... | benign | 273,231 |
Does the chromosome 17 mutation at position 43090927 within gene BRCA1 (BRCA1 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CTGTGCTGGGAATACAAAGAACCAACCTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAAT... | CTGTGCTGGGAATACAAAGAACCAACCTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAAT... | benign | 273,233 |
A genetic variant on chromosome 17, position 43090945, affects the gene BRCA1 (BRCA1 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAACCAACCTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGC... | GAACCAACCTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGC... | pathogenic | 273,245 |
Is the genetic change at chromosome 17, position 43090953, 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', 'Hereditary_cancer-predisposing_syndrome'] | CTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCAC... | CTAATTATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCAC... | pathogenic | 273,250 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43090958—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAA... | TATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAA... | pathogenic | 273,251 |
Is the variant located on chromosome 17 at position 43090959, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAAT... | ATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAAT... | pathogenic | 273,252 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43090959: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAAT... | ATTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAAT... | pathogenic | 273,253 |
Does the variant impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17, position 43090960, classify as 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'] | TTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATC... | TTAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATC... | pathogenic | 273,254 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43090961, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCA... | TAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCA... | pathogenic | 273,255 |
A genetic alteration at chromosome 17, position 43090961, 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', 'Familial_cancer_of_breast'] | TAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCA... | TAGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCA... | pathogenic | 273,256 |
Chromosome 17, position 43090962, 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'] | AGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCAC... | AGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCAC... | pathogenic | 273,257 |
Does the genetic variant at chromosome 17, position 43090962, 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', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_4'] | AGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCAC... | AGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCAC... | pathogenic | 273,258 |
The chromosome 17, position 43090962 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'] | AGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCAC... | AGAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCAC... | pathogenic | 273,259 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43090963 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACT... | GAAGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACT... | pathogenic | 273,260 |
Classify the chromosome 17 variant at position 43090965 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTG... | AGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTG... | pathogenic | 273,261 |
The mutation impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17 at position 43090965: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTG... | AGTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTG... | pathogenic | 273,262 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome 17, position 43090966—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGA... | GTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGA... | pathogenic | 273,263 |
The chromosome 17, position 43090966 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', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGA... | GTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGA... | pathogenic | 273,264 |
Variant on chromosome 17, at position 43090966, 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGA... | GTTGTCAATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGA... | pathogenic | 273,265 |
Is the chromosome 17, position 43090973 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAA... | ATTTAGTGGGAGATAAATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAA... | pathogenic | 273,268 |
A mutation at chromosome position 43090988 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'] | AATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGG... | AATAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGG... | pathogenic | 273,272 |
Chromosome 17, position 43090990, 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'] | TAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTT... | TAAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTT... | pathogenic | 273,273 |
Clinically, how would you classify the variant at chromosome 17, position 43090991, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTG... | AAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTG... | pathogenic | 273,274 |
Does the variant on chromosome 17 at location 43090991 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTG... | AAATGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTG... | pathogenic | 273,275 |
Variant on chromosome 17, at position 43090994, affecting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAG... | TGAAAAAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAG... | pathogenic | 273,277 |
Mutation found at chromosome 17 position 43090999, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGC... | AAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGC... | pathogenic | 273,281 |
Does the variant impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17, position 43090999, classify as 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'] | AAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGC... | AAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGC... | pathogenic | 273,282 |
Is the variant located on chromosome 17 at position 43090999, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGC... | AAAATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGC... | pathogenic | 273,283 |
Regarding the variant found on chromosome 17 at position 43091001 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'] | AATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCA... | AATAAACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCA... | pathogenic | 273,284 |
Is the variant located on chromosome 17 at position 43091005, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAAT... | AACTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAAT... | pathogenic | 273,285 |
Considering the genetic mutation at chromosome 17, position 43091007, 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', 'Breast_neoplasm', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTG... | CTGAGATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTG... | pathogenic | 273,287 |
Benign or pathogenic: chromosome 17, position 43091011, gene BRCA1 (BRCA1 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCC... | GATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCC... | pathogenic | 273,289 |
Evaluate this variant at chromosome 17, position 43091011, 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', 'Hereditary_cancer-predisposing_syndrome'] | GATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCC... | GATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCC... | pathogenic | 273,290 |
A genetic variant at chromosome 17, position 43091012, 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'] | ATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCA... | ATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCA... | pathogenic | 273,292 |
Clinical significance of chromosome 17, position 43091012, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCA... | ATGAGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCA... | pathogenic | 273,293 |
Is the genetic mutation found on chromosome 17 at position 43091015, 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTG... | AGCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTG... | pathogenic | 273,295 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43091016—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTGC... | GCCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTGC... | pathogenic | 273,296 |
A genetic variant on chromosome 17, position 43091017, 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'] | CCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTGCA... | CCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTGCA... | pathogenic | 273,298 |
Classify the chromosome 17 variant at position 43091017 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | CCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTGCA... | CCTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTGCA... | pathogenic | 273,299 |
Does the chromosome 17 mutation at position 43091018 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'] | CTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTGCAT... | CTGAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTGCAT... | pathogenic | 273,300 |
The genetic variant at chromosome 17, position 43091020, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTGCATTC... | GAATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTGCATTC... | pathogenic | 273,302 |
Variant on chromosome 17, at position 43091021, 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'] | AATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTGCATTCC... | AATTTTTGCATGAGAACTTGGAAAATTTTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTGCATTCC... | pathogenic | 273,303 |
Evaluate the clinical significance of the mutation at chromosome 17, position 43091048 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTGCATTCCAGCCTGGGTGACAGAGCAAAACTCCAT... | TTGGTGCCACTTCTACAAATAAAAATTAGGAGGCCAGGCCTGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGACGGGTGGATTATTTGAGGTCAGGAGTTCGAGACGAGCCTGGCCAACATGGTGAAACCCTCTCTCTACTAAAAAAATACAAAAAAATGAGCTGGGTGTGGTGGCAGTCACCTGTAATCCCAGCTACTTAGAAGGCTGAAGCACGAAAATCACTTGATCCTGAACCTGGGAGCTGAAGGTTGCAGTGAGCCAAAATTGTGCCACTGCATTCCAGCCTGGGTGACAGAGCAAAACTCCAT... | benign | 273,314 |
Classify the chromosome 17 variant at position 43091332 affecting gene BRCA1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CTGCATTCCAGCCTGGGTGACAGAGCAAAACTCCATCTCAAAAAAAAAAATTAGGAGAAAGAGCCTGGTTCTATGATGAAGATGATATTCATTTTTAGACGTTGTGATACAGAATGTTTTTTCTAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCA... | CTGCATTCCAGCCTGGGTGACAGAGCAAAACTCCATCTCAAAAAAAAAAATTAGGAGAAAGAGCCTGGTTCTATGATGAAGATGATATTCATTTTTAGACGTTGTGATACAGAATGTTTTTTCTAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCA... | benign | 273,318 |
Is the chromosome 17, position 43091436 variant in BRCA1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | TGATACAGAATGTTTTTTCTAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTAT... | TGATACAGAATGTTTTTTCTAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTAT... | pathogenic | 273,324 |
Located at chromosome 17 position 43091437, the variant affecting gene BRCA1—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GATACAGAATGTTTTTTCTAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATG... | GATACAGAATGTTTTTTCTAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATG... | pathogenic | 273,326 |
Is chromosome 17, position 43091440, gene BRCA1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ACAGAATGTTTTTTCTAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGC... | ACAGAATGTTTTTTCTAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGC... | pathogenic | 273,328 |
Gene mutation in BRCA1 at chromosome 17, position 43091445—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast_and/or_ovarian_cancer', 'Familial_pancreatic_carcinoma', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATGTTTTTTCTAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTA... | ATGTTTTTTCTAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTA... | pathogenic | 273,331 |
Determine if the mutation at chromosome 17, position 43091445 in gene BRCA1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ATGTTTTTTCTAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTA... | ATGTTTTTTCTAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTA... | pathogenic | 273,332 |
Variant in BRCA1, chromosome 17, position 43091451—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTTCTAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAA... | TTTCTAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAA... | pathogenic | 273,335 |
Benign or pathogenic: chromosome 17, position 43091455, gene BRCA1 variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAAT... | TAGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAAT... | pathogenic | 273,337 |
Does the variant impacting BRCA1 on chromosome 17, position 43091456, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | AGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATA... | AGACTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATA... | pathogenic | 273,339 |
Located at chromosome 17 position 43091459, the variant affecting gene BRCA1—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | CTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGC... | CTATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGC... | pathogenic | 273,342 |
Evaluate if the mutation on chromosome 17 at position 43091460 in BRCA1 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCC... | TATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCC... | pathogenic | 273,344 |
Is chromosome 17, position 43091461, gene BRCA1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCA... | ATTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCA... | pathogenic | 273,345 |
Classify the chromosome 17 variant at position 43091462 affecting gene BRCA1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['BRCA1-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Inherited_breast_c... | TTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAG... | TTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAG... | pathogenic | 273,347 |
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