Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001216804 | SCV001388616 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2019-06-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr22*) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with breast cancer (PMID: 26315354). Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV003336341 | SCV004045183 | pathogenic | Familial cancer of breast | 2023-05-30 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |