ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.298C>T (p.Gln100Ter)

dbSNP: rs2054311767
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247249 SCV001420658 pathogenic Familial cancer of breast 2019-11-11 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 observed in an individual with a personal or family history of breast and/or ovarian cancer (PMID: 29752822). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln100*) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV001247249 SCV004043478 pathogenic Familial cancer of breast 2023-06-23 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
GeneDx RCV003442813 SCV004170170 likely pathogenic not provided 2023-04-05 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Identified in individual(s) with breast cancer (Li et al., 2019); This variant is associated with the following publications: (PMID: 24713400, 21876083, 29752822, 34308104)
Baylor Genetics RCV001247249 SCV004217691 pathogenic Familial cancer of breast 2023-04-16 criteria provided, single submitter clinical testing

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.