ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1678-1G>T

gnomAD frequency: 0.00001  dbSNP: rs767208318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001981212 SCV002280796 pathogenic Familial cancer of breast 2022-10-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 8 and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 1492763). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant is present in population databases (rs767208318, gnomAD 0.006%). This sequence change affects an acceptor splice site in intron 7 of the BARD1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV001981212 SCV004043641 likely pathogenic Familial cancer of breast 2023-05-23 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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