NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast;Fanconi anemia complementation group J|not provided|Hereditary breast ovarian cancer syndrome|Fanconi anemia complementation group J|Familial cancer of breast|Malignant tumor of breast|BRIP1-associated familial cancer predisposition|Ovarian cancer;Fanconi anemia complementation group J|Inherited ovarian cancer (without breast cancer)
β
β
ββ2026β Residue 624
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)Pathogenic
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group J;Familial cancer of breast|Familial cancer of breast|BRIP1-associated familial cancer predisposition|not provided
β
β
ββ2026β Residue 16
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Familial cancer of breast;Fanconi anemia complementation group J
β
β
ββ2026β Residue 63
NM_032043.3(BRIP1):c.2519dup (p.Ala841fs)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast;Fanconi anemia complementation group J
β
β
ββ2026β Residue 841
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)Pathogenic
Breast cancer, early-onset|Hereditary cancer-predisposing syndrome|not provided|Ovarian neoplasm|Familial cancer of breast;Fanconi anemia complementation group J|Familial cancer of breast|BRIP1-related disorder|Fanconi anemia complementation group D2
β
β
ββ2026β Residue 581
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)Pathogenic
Fanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|Familial cancer of breast;Fanconi anemia complementation group J|not provided|Fanconi anemia|Breast cancer, early-onset|Familial cancer of breast;Esophageal atresia/tracheoesophageal fistula;Fanconi anemia complementation group J|BRIP1-related disorder|Familial cancer of breast|BRIP1-related disorder;Fanconi anemia complementation group J|Malignant tumor of breast|Breast and/or ovarian cancer|Ovarian cancer|Gastric cancer|Breast-ovarian cancer, familial, susceptibility to, 1|Neoplasm|Inherited ovarian cancer (without breast cancer)
β
β
ββ2026β Residue 798
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast;Fanconi anemia complementation group J|not provided|Fanconi anemia complementation group J|Breast and/or ovarian cancer|Breast-ovarian cancer, familial, susceptibility to, 1|Ovarian cancer|Familial cancer of breast|Hereditary breast ovarian cancer syndrome
β
β
ββ2026β Residue 800
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast;Fanconi anemia complementation group J|Familial ovarian cancer|Familial cancer of breast|Gastric cancer|BRIP1-related disorder|Hereditary breast ovarian cancer syndrome|Fanconi anemia complementation group J;Ovarian cancer
β
β
ββ2026β Residue 439
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Fanconi anemia complementation group J;Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Fanconi anemia complementation group J|Familial cancer of breast
β
β
ββ2026β Residue 647
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)Pathogenic
Fanconi anemia complementation group J|not specified|Hereditary cancer-predisposing syndrome|not provided|Fanconi anemia complementation group J;Familial cancer of breast|Diffuse intrinsic pontine glioma|Hereditary breast ovarian cancer syndrome|Familial cancer of breast|BRIP1-related disorder|Familial ovarian cancer
β
β
ββ2026β Residue 349
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)Pathogenic
Familial cancer of breast;Fanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided
β
β
ββ2026β Residue 24
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)Pathogenic
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group J;Familial cancer of breast|not provided|Familial cancer of breast|Fanconi anemia complementation group J|Fanconi anemia complementation group J;Ovarian cancer
β
β
ββ2026β Residue 504
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs)Pathogenic
Familial cancer of breast;Fanconi anemia complementation group J|Hereditary cancer-predisposing syndrome|not provided|Ovarian cancer|Familial cancer of breast
β
β
ββ2026β Residue 912
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast;Fanconi anemia complementation group J|Familial cancer of breast|Fanconi anemia complementation group J|Familial ovarian cancer|Fanconi anemia complementation group J;Ovarian cancer
β
β
ββ2026β Residue 458
NM_032043.3(BRIP1):c.508-1G>CPathogenic
Fanconi anemia complementation group J;Familial cancer of breast|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group J|Familial cancer of breast|not provided|Fanconi anemia complementation group J;Ovarian cancer
β
β
ββ2026
NM_032043.3(BRIP1):c.462dup (p.Gln155fs)Pathogenic
Fanconi anemia complementation group J;Familial cancer of breast|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J
β
β
ββ2026β Residue 155
NM_032043.3(BRIP1):c.1203_1204del (p.Ala402fs)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|Fanconi anemia complementation group J;Familial cancer of breast
β
β
ββ2026β Residue 402
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast;Fanconi anemia complementation group J|not provided|Hereditary breast ovarian cancer syndrome|Fanconi anemia complementation group J|Gastric cancer|Familial cancer of breast|BRIP1-related disorder
β
β
ββ2026β Residue 162
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group J;Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Familial cancer of breast
β
β
ββ2026β Residue 222
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast;Fanconi anemia complementation group J|Familial cancer of breast|Fanconi anemia complementation group J;Ovarian cancer
β
β
ββ2026β Residue 759