Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000544135 | SCV000635193 | pathogenic | Hereditary breast ovarian cancer syndrome | 2017-08-21 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with BRCA2-related disease. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This sequence change deletes 4 nucleotides and inserts 4 different nucleotides in exon 11 of the BRCA2 mRNA (c.1940_1943delinsTTTA). This creates a premature translational stop signal at codon 468 (p.Cys647_Ser648delinsPhe*) and is expected to result in an absent or disrupted protein product. |