ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.2113A>T (p.Arg705Ter)

dbSNP: rs1064795005
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522696 SCV000618442 likely pathogenic not provided 2017-04-28 criteria provided, single submitter clinical testing This variant is denoted BARD1 c.2113A>T at the cDNA level and p.Arg705Ter (R705X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (AGA>TGA), and is predicted to cause loss of normal protein function through protein truncation. Even though this frameshift occurs near the end of the gene and nonsense-mediated decay is not expected to occur, it is significant since the last 73 amino acids are no longer translated. Furthermore, the truncation would disrupt the BRCT2 domain (Fox 2008). Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic.

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