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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 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 G451fs |
Transcript | NM_000465.4 |
gDNA | chr2:g.(214769276_214769277) |
cDNA | c.(1351_1350) |
Protein | p.G451fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |