BARD1 R658C
Gene Variant Detail

Request Content

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene BARD1
Variant R658C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BARD1 R658C does not lie within any known functional domains of the Bard1 protein (UniProt.org). R658C demonstrates effects on Tp53 stability, cell growth and apoptosis (PMID: 16061562), and homology-directed DNA repair activity similar to wild-type Bard1 in one study (PMID: 39387837), but does not bind to or stabilize Nfkb1 p50 (PMID: 33024116), results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and is associated with increased telomere duplication and expression of BARD1 delta isoform in a patient sample (PMID: 28030839), and therefore, its effect on Bard1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BARD1 mutant BARD1 R658C

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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_000465.4
gDNA chr2:g.214730440G>A
cDNA c.1972C>T
Protein p.R658C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000465.4 chr2:g.214730440G>A c.1972C>T p.R658C RefSeq GRCh38/hg38
NM_000465.3 chr2:g.214730440G>A c.1972C>T p.R658C RefSeq GRCh38/hg38
NM_000465 chr2:g.214730440G>A c.1972C>T p.R658C 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BARD1 mutant breast cancer no benefit Olaparib Case Reports/Case Series Actionable In a Phase II trial (TBCRC 048), Lynparza (olaparib) treatment did not result in an objective response in a patient with metastatic breast cancer harboring a germline mutation in BARD1 (PMID: 33119476; NCT03344965). 33119476
BARD1 mutant breast cancer not applicable N/A Guideline Risk Factor Germline BARD1 mutations are associated with increased risk of developing breast cancer (NCCN.org). detail...