BARD1 V523A
Gene Variant Detail

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Gene BARD1
Variant V523A
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BARD1 V523A lies within ANK repeat 3 of the Bard1 protein (UniProt.org). V523A results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture, has been associated with increased loss of heterozygosity (LOH) in patient samples (PMID: 30925164), and results in impaired DNA repair, increased DNA damage in response to irradiation, increased production of ROS, and decreased apoptotic activity in cultured patient cells, and transformation activity in culture (PMID: 38990952), 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 V523A

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Transcript NM_000465.4
gDNA chr2:g.214767482A>G
cDNA c.1568T>C
Protein p.V523A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465.4 chr2:g.214767482A>G c.1568T>C p.V523A RefSeq GRCh38/hg38
NM_000465 chr2:g.214767482A>G c.1568T>C p.V523A RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214767482A>G c.1568T>C p.V523A RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.214767482A>G c.1568T>C p.V523A RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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