Total submissions: 2
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, |
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. |