ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.856del (p.Gln285_Ile286insTer)

dbSNP: rs2106110129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389853 SCV001591372 pathogenic Familial cancer of breast 2020-04-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236). This variant has not been reported in the literature in individuals with BARD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile286*) in the BARD1 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV001389853 SCV004042950 pathogenic Familial cancer of breast 2023-05-19 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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