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Gene | BARD1 |
Variant | E652fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BARD1 E652fs results in a change in the amino acid sequence of the Bard1 protein beginning at aa 652 of 777, likely resulting in premature truncation of the functional protein (UniProt.org). E652fs has not been biochemically characterized however, due to the effects of other truncation mutations downstream of E652 (PMID: 30925164, PMID: 31371347), is predicted to lead to a loss of Bard1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 E652fs |
Transcript | NM_000465.4 |
gDNA | chr2:g.(214730458_214730459) |
cDNA | c.(1954_1953) |
Protein | p.E652fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465.3 | chr2:g.(214730458_214730459) | c.(1954_1953) | p.E652fs | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.(214730458_214730459) | c.(1954_1953) | p.E652fs | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.(214730458_214730459) | c.(1954_1953) | p.E652fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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