ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.433del (p.Arg145fs)

dbSNP: rs1555927137
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 RCV000530353 SCV000633184 pathogenic Familial cancer of breast 2017-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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). This sequence change deletes 1 nucleotide from exon 3 of the CHEK2 mRNA (c.433delC), causing a frameshift at codon 145. This creates a premature translational stop signal (p.Arg145Glyfs*16) and is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV000530353 SCV004044121 pathogenic Familial cancer of breast 2023-06-23 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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.