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Gene | BARD1 |
Variant | V507M |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | BARD1 V507M lies within ANK repeat 3 of the Bard1 protein (UniProt.org). V507M results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), but leads to similar genome stability, ubiquitin-conjugation, Brca1 and Rad51 foci formation, and DNA damage response as wild-type Bard1 in cultured cells, and is not transforming in Tp53-null cells in a mouse model (PMID: 33623049), and therefore, is predicted to have no effect on Bard1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 V507M |
Transcript | NM_000465.4 |
gDNA | chr2:g.214767531C>T |
cDNA | c.1519G>A |
Protein | p.V507M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465 | chr2:g.214767531C>T | c.1519G>A | p.V507M | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214767531C>T | c.1519G>A | p.V507M | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214767531C>T | c.1519G>A | p.V507M | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214767531C>T | c.1519G>A | p.V507M | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BARD1 V507M | no effect - predicted |