Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | BARD1 |
| Variant | G698D |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | BARD1 G698D lies within BRCT domain 2 of the Bard1 protein (UniProt.org). G698D results in decreased homology-directed DNA repair activity in cell culture (PMID: 30925164), and therefore, is predicted to lead to a loss of Bard1 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 G698D |
| Transcript | NM_000465.4 |
| gDNA | chr2:g.214728917C>T |
| cDNA | c.2093G>A |
| Protein | p.G698D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000465.4 | chr2:g.214728917C>T | c.2093G>A | p.G698D | RefSeq | GRCh38/hg38 |
| NM_000465 | chr2:g.214728917C>T | c.2093G>A | p.G698D | RefSeq | GRCh38/hg38 |
| NM_000465.3 | chr2:g.214728917C>T | c.2093G>A | p.G698D | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| BARD1 G698D | loss of function - predicted | Olaparib |