Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000799227 | SCV000938881 | pathogenic | Hereditary breast ovarian cancer syndrome | 2018-09-28 | criteria provided, single submitter | clinical testing | 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 been observed in individuals affected with breast cancer (PMID: 28975465). This variant is also known as c.4786delA in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn1596Ilefs*21) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. |
Biochemical Molecular Genetic Laboratory, |
RCV001028061 | SCV001190837 | pathogenic | Fanconi anemia complementation group D1 | 2020-02-05 | no assertion criteria provided | clinical testing |