Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000689709 | SCV000817374 | pathogenic | Familial cancer of breast | 2020-01-26 | 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 been reported in an individual with personal and family history of prostate cancer (PMID: 24556621). ClinVar contains an entry for this variant (Variation ID: 569149). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn290Thrfs*14) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. |
Myriad Genetics, |
RCV000689709 | SCV004044321 | pathogenic | Familial cancer of breast | 2023-06-27 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |