| Variant ID | 2949 |
|---|---|
| Entrez Gene ID | 580 |
| Gene | BARD1 (GeneCards) |
| Location | hg19 2:215659111-215659111
hg38 2:214794387-214794387 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.215659111 T>C (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2488 |
| CADD Raw score (version 1.3) | 0.315198 (Deleterious) |
| FATHMM raw prediction score | 0.06884 (Tolerated) |
| Deleterious probability by DeFine | 0.1401 (Neutral) |
| Entrez Gene ID | 580 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BARD1 (GeneCards) |
| Number of variants in BARD1 in this database | 2 (view all the variants) |
| Full name | BRCA1 associated RING domain 1 |
| Band | 2q35 |
| Other IDs | Vega: OTTHUMG00000133016 OMIM: 601593 HGNC: HGNC:952 Ensembl: ENSG00000138376 |
| Other names | None |
| Summary | 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] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |