Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031463 | SCV001194769 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-10-15 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 9 of the BRCA2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Similar deletions of exon 9 have not been reported in the literature in individuals with BRCA2-related disease. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. |