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Gene | BARD1 |
Variant | G753D |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | BARD1 G753D lies within BRCT domain 2 of the Bard1 protein (UniProt.org). G753D results in decreased homology-directed DNA repair activity compared to wild-type Bard1, leading to increased sensitivity to DNA damaging agents in cell culture (PMID: 30925164). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 G753D |
Transcript | NM_000465.4 |
gDNA | chr2:g.214728752C>T |
cDNA | c.2258G>A |
Protein | p.G753D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465.4 | chr2:g.214728752C>T | c.2258G>A | p.G753D | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214728752C>T | c.2258G>A | p.G753D | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214728752C>T | c.2258G>A | p.G753D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BARD1 G753D | cervical cancer | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, cisplatin treatment of HeLa cells expressing Bard1 G753D were more sensitive than wild-type Bard1 expressing cells, as demonstrated by decreased colony formation (PMID: 30925164). | 30925164 |