Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000258444 | SCV000327657 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000467351 | SCV000563933 | pathogenic | Hereditary breast ovarian cancer syndrome | 2016-12-13 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 15-16 of the BRCA2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic. Deletions of exons 15-16 have been reported in the literature in individuals affected with ovarian cancer (PMID: 21324516, 19894111), two related individuals with breast cancer (PMID: 17063271), and an individual with breast cancer, gastric cancer, and hepatocellular cancer (PMID: 23099436). For these reasons, this variant has been classified as Pathogenic. |