Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000705355 | SCV000834347 | pathogenic | Familial cancer of breast | 2018-03-11 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with CHEK2-related disease. 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 is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His54Profs*6) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. |