Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000533140 | SCV000633144 | pathogenic | Familial cancer of breast | 2019-02-25 | criteria provided, single submitter | clinical testing | 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 disease. ClinVar contains an entry for this variant (Variation ID: 460807). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser53Valfs*25) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. |