Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001054096 | SCV001218391 | pathogenic | Familial cancer of breast | 2023-04-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 850015). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr156*) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). |
Human Genome Sequencing Center Clinical Lab, |
RCV001258053 | SCV001434884 | likely pathogenic | Breast cancer, susceptibility to; Prostate cancer, susceptibility to | 2019-01-29 | criteria provided, single submitter | clinical testing | This c.597C>G (p.Tyr199*) variant in exon 5 of the CHEK2 gene creates a stop codon which is predicted to lead to nonsense-mediated mRNA decay, which is a known disease mechanism for this gene. This variant is not observed in the gnomAD population databases. Therefore, the c.597C>G (p.Tyr199*) variant in the CHEK2 gene is classified as likely pathogenic. |