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
RS1555607070 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1555607230 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555607759 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1555607768 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555607792 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555609116 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J
RS1555609162 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1555609191 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1555609214 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555609254 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1555609257 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1555609298 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555615743 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555615763 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J, Familial cancer of breast
RS1555615784 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555616150 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1555616176 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1555616185 Health Risk Pathogenic —
RS1555616206 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555617829 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Familial cancer of breast
RS1555617834 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1555618374 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1555618375 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555618396 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J
RS1555618727 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ovarian cancer, Fanconi anemia complementation group J
RS1567731917 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567732136 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1567781169 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1567781516 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1567781543 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1567809140 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J, Familial cancer of breast
RS1567812616 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567813223 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1567816997 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1567838174 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567866856 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567868477 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1567874485 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1567874779 Health Risk Pathogenic —
RS1567876917 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1567878234 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1603276728 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1603276837 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1603277005 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1603280507 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1603328406 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1603328667 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1603328780 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1603328816 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1603328913 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
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