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Gene BARD1
Variant V767fs
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions BARD1 V767fs results in a change in the amino acid sequence of the Bard1 protein beginning at aa 767 of 777, likely resulting in premature truncation of the functional protein (UniProt.org). V767fs results in decreased homology-directed DNA repair activity, leading to increased sensitivity to DNA damaging agents in cell culture (PMID: 30925164).
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 inact mut BARD1 V767fs

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Transcript NM_000465.4
gDNA chr2:g.(214728711_214728712)
cDNA c.(2299_2298)
Protein p.V767fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465 chr2:g.(214728711_214728712) c.(2299_2298) p.V767fs RefSeq GRCh38/hg38
NM_000465.4 chr2:g.(214728711_214728712) c.(2299_2298) p.V767fs RefSeq GRCh38/hg38
NM_000465.3 chr2:g.(214728711_214728712) c.(2299_2298) p.V767fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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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  • 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
BARD1 V767fs cervical cancer sensitive Cisplatin Preclinical - Cell culture Actionable In a preclinical study, cisplatin treatment of HeLa cells expressing Bard1 P707S were more sensitive than wild-type Bard1 expressing cells, as demonstrated by decreased colony formation (PMID: 30925164). 30925164