ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.468C>G (p.Tyr156Ter)

dbSNP: rs1555926996
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
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, Baylor College of Medicine 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.