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Gene BARD1
Variant V695L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BARD1 V695L lies within BRCT domain 2 of the Bard1 protein (UniProt.org). The functional effect of V695L is conflicting, as it demonstrates homology-directed DNA repair activity similar to wild-type Bard1, but also results in a loss of growth inhibition and apoptosis in cell culture (PMID: 17848578, PMID: 16061562), results in reduced centrosomal amplification and localization of Bard1 in cell culture, demonstrates association with Brca1 similar to wild-type Bard1 in an in-vitro assay (PMID: 29858377), and decreased homology-directed DNA repair activity (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 V695L

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Transcript NM_000465.4
gDNA chr2:g.214728927C>G
cDNA c.2083G>C
Protein p.V695L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465 chr2:g.214728927C>G c.2083G>C p.V695L RefSeq GRCh38/hg38
NM_000465.4 chr2:g.214728927C>G c.2083G>C p.V695L RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214728927C>G c.2083G>C p.V695L RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References