Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001054190 | SCV001218493 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2019-02-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile482Valfs*45) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This variant has not been reported in the literature in individuals with BRIP1-related conditions. This variant is not present in population databases (ExAC no frequency). |