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
RS1603334758 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1603336895 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1603336897 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1603336980 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1603340281 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1603340353 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1603342258 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1603342339 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1603343101 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1603343235 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1603346830 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1603347058 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1603361570 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1603361577 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1603361587 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1603361705 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1603362580 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J, Familial cancer of breast
RS1603362622 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS1603362725 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS1603366250 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J, Familial cancer of breast
RS1603366351 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1603367647 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J, Familial cancer of breast
RS1603367673 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J, Familial cancer of breast
RS1603367753 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1603368490 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS182028200 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS199643061 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J
RS2061353736 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2061354035 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2061358219 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS2061359296 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS2061477722 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS2061478781 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS2061478980 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2061854079 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2077030288 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2077034404 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2077034919 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2077534379 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2077537050 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS2077537479 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS2077594062 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS2077606796 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2077609103 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Familial cancer of breast
RS2077609211 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group J
RS2077609777 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS2077610620 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2077611091 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast, Fanconi anemia complementation group J
RS2077667669 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS2077671871 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
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