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Gene | BARD1 |
Variant | G451fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BARD1 G451fs results in a change in the amino acid sequence of the Bard1 protein beginning at aa 451 of 777, likely resulting in premature truncation of the functional protein (UniProt.org). G451fs has been associated with increased loss of heterozygosity (LOH) in patient samples, and is predicted to confer a loss of function to the Bard1 protein as demonstrated by decreased homology-directed DNA repair activity in cell culture (PMID: 30925164). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 G451fs |
Transcript | NM_000465.4 |
gDNA | chr2:g.(214769276_214769277) |
cDNA | c.(1351_1350) |
Protein | p.G451fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465 | chr2:g.(214769276_214769277) | c.(1351_1350) | p.G451fs | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.(214769276_214769277) | c.(1351_1350) | p.G451fs | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.(214769276_214769277) | c.(1351_1350) | p.G451fs | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.(214769276_214769277) | c.(1351_1350) | p.G451fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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