BARD1 Chromosome 2
BRCA1 associated RING domain 1
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What This Gene Does
This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
"Ring finger proteins|Ankyrin repeat domain containing|BRCA1 B complex"
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000138376
Associated Conditions (30)
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BARD1-related cancer predisposition
BARD1-related disorder
Malignant tumor of breast
Hereditary cancer
Breast and/or ovarian cancer
Clear cell carcinoma of kidney
Ovarian cancer
Thyroid cancer
nonmedullary
1
Hepatocellular carcinoma
Triple-Negative Breast Cancer Finding
Familial ovarian cancer
Carcinoma of colon
Familial pancreatic carcinoma
Gastric cancer
Hepatoblastoma
+10 more conditions
Key Variants
RS1025329798
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1031199399
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
Health Risk
RS1039799564
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1057522270
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
Health Risk
RS1060501279
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1060501284
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1060501293
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
Health Risk
RS1060501295
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1060501297
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, BARD1-related disorder
Health Risk
RS1060501306
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1060501308
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
Health Risk
RS1060504190
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
All Variants (834)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2469509820 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469509853 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469510019 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469510048 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469510104 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469510700 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469510863 | Health Risk | Pathogenic | Gastric cancer, Gastric cancer |
| RS2469511563 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469511668 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469511724 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469512011 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469512063 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469512079 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469512226 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469512685 | Health Risk | Pathogenic | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2469513098 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469513513 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469513544 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469513563 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469513625 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469513640 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469513748 | Health Risk | Pathogenic | Gastric cancer, Gastric cancer |
| RS2469514179 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469514725 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469560396 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469560852 | Health Risk | Pathogenic | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2469560933 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469560940 | Health Risk | Pathogenic | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2469561106 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469561153 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469561494 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469561564 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469581775 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469637444 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469637685 | Health Risk | Pathogenic | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2469638141 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469638231 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast, Familial cancer of breast |
| RS2469638497 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469639309 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469639640 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469639836 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469639844 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469639907 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS2469639957 | Health Risk | Pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS587780021 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary breast ovarian cancer syndrome |
| RS587780035 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial cancer of breast, BARD1-related cancer predisposition |
| RS587781430 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS587781671 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS587781707 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Breast cancer |
| RS587781728 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome |