Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000584683 | SCV000688832 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-10-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001860075 | SCV002207201 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-01-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 491259). This variant is also known as 3989del4ins45. This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1254Valfs*19) 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). |