BRIP1 Chromosome 17
BRCA1 interacting DNA helicase 1
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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 |
|---|---|---|---|
| RS2077853451 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast |
| RS2077857156 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial ovarian cancer, Hereditary cancer-predisposing syndrome |
| RS2077947183 | Health Risk | Pathogenic | Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J |
| RS2077948208 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome |
| RS2077949826 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome |
| RS2077951770 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast |
| RS2077985927 | Health Risk | Pathogenic | Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2077989420 | Health Risk | Pathogenic | Breast and/or ovarian cancer, Breast and/or ovarian cancer |
| RS2077991700 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Gastric cancer |
| RS2077993866 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2078112057 | Health Risk | Pathogenic | Fanconi anemia complementation group J, Familial cancer of breast, Familial ovarian cancer |
| RS2078112240 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast |
| RS2078117088 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast |
| RS2078746295 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2078747114 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2078778379 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2078779429 | Health Risk | Pathogenic | Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J |
| RS2078951497 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome |
| RS2144108674 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2144111205 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J, Familial cancer of breast |
| RS2144112699 | Health Risk | Pathogenic | Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2144113001 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast |
| RS2144113535 | Health Risk | Pathogenic | Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J |
| RS2144115743 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast |
| RS2144116207 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2144185746 | Health Risk | Pathogenic | Gastric cancer, Familial cancer of breast, Gastric cancer |
| RS2144187284 | Health Risk | Pathogenic | Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2144187480 | Health Risk | Pathogenic | Fanconi anemia complementation group J, Familial cancer of breast, Hereditary breast ovarian cancer syndrome |
| RS2144380398 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast |
| RS2144381014 | Health Risk | Pathogenic | Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J |
| RS2144381202 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J |
| RS2144677021 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J |
| RS2144677625 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2144678308 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome |
| RS2144697372 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome |
| RS2144700629 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast |
| RS2144701307 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast |
| RS2145027657 | Health Risk | Pathogenic | Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J |
| RS2145028011 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast |
| RS2145029870 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast |
| RS2145030551 | Health Risk | Pathogenic | Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J |
| RS2145031089 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast |
| RS2145032405 | Health Risk | Pathogenic | Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J |
| RS2145033356 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast |
| RS2145074473 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J |
| RS2145076139 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2145078770 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2145079010 | Health Risk | Pathogenic | Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J |
| RS2145081656 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2145081748 | Health Risk | Pathogenic | Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast |