Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001041222 | SCV001204824 | pathogenic | Familial cancer of breast | 2019-11-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly151Valfs*10) in the CHEK2 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 CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). This variant has not been reported in the literature in individuals with CHEK2-related conditions. This variant is not present in population databases (ExAC no frequency). |
Myriad Genetics, |
RCV001041222 | SCV004044352 | pathogenic | Familial cancer of breast | 2023-06-23 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |