ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1344del (p.Pro449fs)

dbSNP: rs1601719328
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010972 SCV001171242 pathogenic Hereditary cancer-predisposing syndrome 2023-09-21 criteria provided, single submitter clinical testing The c.1344delT pathogenic mutation, located in coding exon 11 of the CHEK2 gene, results from a deletion of one nucleotide at nucleotide position 1344, causing a translational frameshift with a predicted alternate stop codon (p.P449Lfs*20). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV001385373 SCV001585208 pathogenic Familial cancer of breast 2024-04-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro449Leufs*20) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 818904). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV001385373 SCV004043624 pathogenic Familial cancer of breast 2023-06-28 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.