BRIP1 Chromosome 17

BRCA1 interacting DNA helicase 1
1091 variants 1091 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"DEAH-box helicases|FA complementation groups|BRCA1 B complex"
Locus Type
gene with protein product
Location
17q23.2
Ensembl
ENSG00000136492
Associated Conditions (41)
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial ovarian cancer
BRIP1-related disorder
Hereditary breast ovarian cancer syndrome
Ovarian cancer
Gastric cancer
Malignant tumor of breast
Diffuse intrinsic pontine glioma
Breast carcinoma
Inherited ovarian cancer (without breast cancer)
Breast-ovarian cancer
familial
susceptibility to
2
Breast cancer
early-onset
Monogenic short stature
+21 more conditions
Key Variants
RS1003917080
Conflicting classifications of pathogenicity
Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
Health Risk
RS1008150951
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
Health Risk
RS1034545913
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J, Familial cancer of breast
Health Risk
RS1034551306
Conflicting classifications of pathogenicity
Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
Health Risk
RS1046992728
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
Health Risk
RS1057517647
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
Health Risk
RS1057521675
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
Health Risk
RS1057523068
Conflicting classifications of pathogenicity
Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome
Health Risk
RS1060501738
Conflicting classifications of pathogenicity
Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
Health Risk
RS1060501740
Conflicting classifications of pathogenicity
Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
Health Risk
RS1060501774
Conflicting classifications of pathogenicity
Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
Health Risk
RS1060501781
Conflicting classifications of pathogenicity
Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (1091)
RSID Category Clinical Significance Conditions
RS951001849 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS980793349 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS996493095 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060501757 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1219435870 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Familial cancer of breast
RS1252979934 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1368457771 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J, Familial cancer of breast
RS1409603424 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1437158047 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J, Familial cancer of breast
RS1438059784 Health Risk Likely pathogenic Breast and/or ovarian cancer, Breast and/or ovarian cancer
RS1438975574 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1555590286 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1555601204 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1555603635 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Ovarian cancer
RS1555603638 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1555607628 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1555609402 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1567729445 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567737536 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast, Fanconi anemia complementation group J
RS1567755539 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J, Familial cancer of breast
RS1567756032 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J, Familial cancer of breast
RS1567779336 Health Risk Likely pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1567838246 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1567868785 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1603280621 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1603293306 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1603293314 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1603334464 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1603346587 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS2061323811 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS2061326585 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2061856480 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J
RS2077029293 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J
RS2077945546 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS2078111971 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial ovarian cancer, Fanconi anemia complementation group J
RS2078113517 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2078745026 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS2078781062 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2144080858 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2144093507 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2144094448 Health Risk Likely pathogenic —
RS2144384449 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J
RS2144674380 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS2144674833 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2144680456 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast, Fanconi anemia
RS2144694677 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2144701807 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145098172 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145134667 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2145245448 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
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