Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002543541 | SCV003306993 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-07-18 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1012162). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This sequence change creates a premature translational stop signal (p.Ser521Glnfs*4) 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). |
Genomic Center, |
RCV001310066 | SCV001499589 | pathogenic | Familial cancer of breast | no assertion criteria provided | case-control |