Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000528553 | SCV000635203 | pathogenic | Hereditary breast ovarian cancer syndrome | 2017-07-19 | criteria provided, single submitter | clinical testing | Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BRCA2-related disease. This variant, c.2098_2117delinsGCA, is a complex sequence change that causes a frameshift at codon 700. This creates a premature translational stop signal (p.Leu700Alafs*2) and is expected to result in an absent or disrupted protein product. |