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Gene | BARD1 |
Variant | S339T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BARD1 S339T does not lie within any known functional domains of the Bard1 protein (UniProt.org). S339T has been associated with increased loss of heterozygosity (LOH) in patient samples and results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 S339T |
Transcript | NM_000465.4 |
gDNA | chr2:g.214780858C>G |
cDNA | c.1016G>C |
Protein | p.S339T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465.3 | chr2:g.214780858C>G | c.1016G>C | p.S339T | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214780858C>G | c.1016G>C | p.S339T | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214780858C>G | c.1016G>C | p.S339T | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214780858C>G | c.1016G>C | p.S339T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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