NM_007294.4(BRCA1):c.80+4A>TPathogenic
Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|BRCA1-related cancer predisposition|not provided
β
β
β
β2026
NM_007294.4(BRCA1):c.5075A>T (p.Asp1692Val)Likely pathogenic
Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|not specified|Hereditary cancer-predisposing syndrome|not provided|BRCA1-related cancer predisposition
β
β
β
β2026β Residue 1692
NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His)Likely pathogenic
Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|BRCA1-related cancer predisposition
β
β
β
β2026β Residue 1395
NM_007294.4(BRCA1):c.5425G>T (p.Val1809Phe)Likely pathogenic
Breast-ovarian cancer, familial, susceptibility to, 1|not provided|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|BRCA1-related cancer predisposition
β
β
β
β2026β Residue 1809
NM_007294.4(BRCA1):c.286G>A (p.Asp96Asn)Likely pathogenic
Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|BRCA1-related cancer predisposition
β
β
β
β2026β Residue 96
NM_007294.4(BRCA1):c.101C>T (p.Pro34Leu)Likely pathogenic
Hereditary cancer-predisposing syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|not provided|Hereditary breast ovarian cancer syndrome|BRCA1-related cancer predisposition
β
β
β
β2026β Residue 34
NM_007294.4(BRCA1):c.5152+3A>CPathogenic
Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|BRCA1-related cancer predisposition
β
β
β
β2026
NM_007294.4(BRCA1):c.5202T>G (p.Phe1734Leu)Likely pathogenic
Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|BRCA1-related cancer predisposition
β
β
β
β2026β Residue 1734
NM_007294.4(BRCA1):c.81-6T>ALikely pathogenic
Familial cancer of breast|Breast-ovarian cancer, familial, susceptibility to, 1|not provided|Hereditary cancer-predisposing syndrome|BRCA1-related cancer predisposition
β
β
β
β2025
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)Likely pathogenic
Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|not provided|Hereditary cancer-predisposing syndrome|Fanconi anemia, complementation group S|BRCA1-related cancer predisposition
β
β
β
β2025β Residue 1713
NM_007294.4(BRCA1):c.32T>G (p.Val11Gly)Likely pathogenic
not provided|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|BRCA1-related cancer predisposition
β
β
β
β2025β Residue 11
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr)Likely pathogenic
Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|not provided|BRCA1-related cancer predisposition
β
β
β
β2025β Residue 1789
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys)Likely pathogenic
Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Fanconi anemia, complementation group S|BRCA1-related cancer predisposition
β
β
β
β2025β Residue 1703
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)Pathogenic
Breast-ovarian cancer, familial, susceptibility to, 1|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|not provided|Triple-negative breast cancer|BRCA1-related cancer predisposition
β
β
β
β2025β Residue 1786
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser)Pathogenic
Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|BRCA1-related cancer predisposition
β
β
β
β2025β Residue 1761
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly)Likely pathogenic
Hereditary cancer-predisposing syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|BRCA1-related cancer predisposition
β
β
β
β2025β Residue 1718
NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys)Likely pathogenic
Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|not provided|Hereditary breast ovarian cancer syndrome|BRCA1-related cancer predisposition
β
β
β
β2025β Residue 1715
NM_007294.4(BRCA1):c.100C>T (p.Pro34Ser)Likely pathogenic
not provided|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|BRCA1-related cancer predisposition
β
β
β
β2025β Residue 34
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn)Pathogenic
Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|not provided|BRCA1-related cancer predisposition
β
β
β
β2025β Residue 1778
NM_007294.4(BRCA1):c.5152+6T>CPathogenic
Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|BRCA1-related cancer predisposition
β
β
β
β2025