Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001387460 | SCV001588077 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2020-10-16 | criteria provided, single submitter | clinical testing | 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 BRIP1-related conditions. This sequence change creates a premature translational stop signal (p.Ser601Glnfs*12) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). |
Myriad Genetics, |
RCV003336405 | SCV004044577 | pathogenic | Familial cancer of breast | 2023-06-05 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |