BARD1 S142*
Gene Variant Detail

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Gene BARD1
Variant S142*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions BARD1 S142* results in a premature truncation of the Bard1 protein at amino acid 142 of 777 (UniProt.org). S142* has not been biochemically characterized however, due to the effects of other truncation mutations downstream of S142 (PMID: 31371347, PMID: 30925164), is predicted to lead to a loss of Bard1 protein function.
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 inact mut BARD1 S142*

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Transcript NM_000465.4
gDNA chr2:g.214781449G>T
cDNA c.425C>A
Protein p.S142*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017004613.1 chr2:g.214792334_214792336delAGTinsTGA c.424_426delAGTinsTGA p.S142* RefSeq GRCh38/hg38
XM_017004614.1 chr2:g.214792334_214792336delAGTinsTGA c.424_426delAGTinsTGA p.S142* RefSeq GRCh38/hg38
XM_017004613 chr2:g.214792334_214792336delACTinsTCA c.424_426delAGTinsTGA p.S142* RefSeq GRCh38/hg38
NM_000465 chr2:g.214781449G>T c.425C>A p.S142* RefSeq GRCh38/hg38
XM_047445350.1 chr2:g.214781449G>T c.425C>A p.S142* RefSeq GRCh38/hg38
XM_017004614 chr2:g.214792334_214792336delACTinsTCA c.424_426delAGTinsTGA p.S142* RefSeq GRCh38/hg38
XM_017004614.2 chr2:g.214792334_214792336delAGTinsTGA c.424_426delAGTinsTGA p.S142* RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214781449G>T c.425C>A p.S142* RefSeq GRCh38/hg38
NM_000465.4 chr2:g.214781449G>T c.425C>A p.S142* RefSeq GRCh38/hg38
XM_017004613.2 chr2:g.214792334_214792336delAGTinsTGA c.424_426delAGTinsTGA p.S142* 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 )
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries