ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.524dup (p.Gly176fs) (rs587780184)

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
Ambry Genetics RCV000116023 SCV000278300 pathogenic Hereditary cancer-predisposing syndrome 2015-09-13 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)
GeneDx RCV000497285 SCV000149932 pathogenic not provided 2017-10-23 criteria provided, single submitter clinical testing This duplication of one nucleotide in CHEK2 is denoted c.524dupT at the cDNA level and p.Gly176ArgfsX10 (G176RfsX10) at the protein level. The normal sequence, with the base that is duplicated in brackets, is CTTG[dupT]AGGG. The duplication causes a frameshift, which changes a Glycine to an Arginine at codon 176, and creates a premature stop codon at position 10 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant was observed in one individual with cancer of the appendix referred for clinical testing for inherited cancer (Susswein 2015). We consider this variant to be 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.