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Gene | BARD1 |
Variant | L480S |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BARD1 L480S lies within ANK repeat 2 of the Bard1 protein (UniProt.org). L480S is predicted to confer a loss of function to the Bard1 protein, as demonstrated by decreased homology-directed DNA repair activity in cell culture (PMID: 30925164). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 L480S |
Transcript | NM_000465.4 |
gDNA | chr2:g.214767611A>G |
cDNA | c.1439T>C |
Protein | p.L480S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017004614.1 | chr2:g.214769287_214769288delCTinsAG | c.1438_1439delCTinsAG | p.L480S | RefSeq | GRCh38/hg38 |
XM_017004613.2 | chr2:g.214769287_214769288delCTinsAG | c.1438_1439delCTinsAG | p.L480S | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214767611A>G | c.1439T>C | p.L480S | RefSeq | GRCh38/hg38 |
XM_017004613.1 | chr2:g.214769287_214769288delCTinsAG | c.1438_1439delCTinsAG | p.L480S | RefSeq | GRCh38/hg38 |
XM_017004614.2 | chr2:g.214769287_214769288delCTinsAG | c.1438_1439delCTinsAG | p.L480S | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214767611A>G | c.1439T>C | p.L480S | RefSeq | GRCh38/hg38 |
XM_017004613 | chr2:g.214769287_214769288delAGinsCT | c.1438_1439delCTinsAG | p.L480S | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214767611A>G | c.1439T>C | p.L480S | RefSeq | GRCh38/hg38 |
XM_017004614 | chr2:g.214769287_214769288delAGinsCT | c.1438_1439delCTinsAG | p.L480S | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214767611A>G | c.1439T>C | p.L480S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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