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
RS876660203 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS878855143 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS995056553 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Fanconi anemia complementation group J
RS1057517643 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1057519365 Health Risk Pathogenic Carcinoma of colon, Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1060501765 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J
RS1060501766 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J
RS1060501767 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1060501772 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1060501778 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1060501779 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1060501780 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1064794095 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1064794668 Health Risk Pathogenic —
RS1064795352 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1304655615 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1305928655 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1310861578 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1350433372 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1356014648 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS137852986 Health Risk Pathogenic Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1400202829 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS140233356 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J, Familial cancer of breast
RS1436085018 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Fanconi anemia complementation group J
RS1443511163 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1489355776 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast, Fanconi anemia complementation group J
RS1555573342 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome, Thyroid cancer
RS1555573356 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1555573386 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1555573497 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1555574788 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1555574796 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555574803 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Gastric cancer
RS1555580769 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1555590388 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1555590521 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1555591308 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J, Familial cancer of breast
RS1555591361 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1555591365 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1555591547 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555601002 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS1555601064 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1555601094 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555601203 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1555602127 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J
RS1555602154 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555602638 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1555603622 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1555605866 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555605902 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
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