Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001242113 | SCV001415180 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-10-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp2811Glufs*8) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA2-related conditions. This variant is not present in population databases (ExAC no frequency). |