Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002415172 | SCV002722352 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-06-23 | criteria provided, single submitter | clinical testing | The c.1875_1876delCA pathogenic mutation, located in coding exon 9 of the BARD1 gene, results from a deletion of two nucleotides at nucleotide positions 1875 to 1876, causing a translational frameshift with a predicted alternate stop codon (p.N626Wfs*8). 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. |
Invitae | RCV003500778 | SCV004262276 | pathogenic | Familial cancer of breast | 2023-12-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn626Trpfs*8) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1781755). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |