ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1188del (p.Val397fs) (rs753159426)

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
Ambry Genetics RCV000492286 SCV000581180 pathogenic Hereditary cancer-predisposing syndrome 2017-08-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000492286 SCV000913580 pathogenic Hereditary cancer-predisposing syndrome 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV000234460 SCV000289652 pathogenic Familial cancer of breast 2017-07-31 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 11 of the CHEK2 mRNA (c.1188delT), causing a frameshift at codon 397. This creates a premature translational stop signal (p.Val397Phefs*17) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000234460 SCV000839464 likely pathogenic Familial cancer of breast 2018-07-02 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.