ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.295del (p.Arg99fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002894533 SCV003237191 pathogenic Familial cancer of breast 2022-10-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg99Aspfs*6) in the BARD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236).
Ambry Genetics RCV004065949 SCV005035672 pathogenic Hereditary cancer-predisposing syndrome 2024-01-10 criteria provided, single submitter clinical testing The c.295delA pathogenic mutation, located in coding exon 3 of the BARD1 gene, results from a deletion of one nucleotide at nucleotide position 295, causing a translational frameshift with a predicted alternate stop codon (p.R99Dfs*6). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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