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Gene | BARD1 |
Variant | K209Efs*5 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BARD1 K209Efs*5 indicates a shift in the reading frame starting at amino acid 209 and terminating 5 residues downstream causing a premature truncation of the 777 amino acid Bard1 protein (UniProt.org). K209Efs*5 has not been biochemically characterized however, due to the effects of other truncation mutations downstream of K209 (PMID: 31371347, PMID: 30925164), is predicted to lead to a loss of Bard1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 K209Efs*5 |
Transcript | NM_000465.4 |
gDNA | chr2:g.214781250dupC |
cDNA | c.624dupG |
Protein | p.K209Efs*5 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465 | chr2:g.214781250dupC | c.624dupG | p.K209Efs*5 | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214781250dupC | c.624dupG | p.K209Efs*5 | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214781250dupC | c.624dupG | p.K209Efs*5 | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214781250dupC | c.624dupG | p.K209Efs*5 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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