Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001240214 | SCV001413140 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-02-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys485Metfs*26) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002393615 | SCV002696686 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-01-23 | criteria provided, single submitter | clinical testing | The c.1454delAinsTGTATT pathogenic mutation, located in coding exon 9 of the BRCA2 gene, results from the deletion of one nucleotide and insertion of 6 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.K485Mfs*26). 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. |