ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu) (rs376736188)

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
GeneDx RCV000522986 SCV000618305 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing This variant is denoted CHEK2 c.79C>G at the cDNA level, p.Gln27Glu (Q27E) at the protein level, and results in the change of a Glutamine to a Glutamic Acid (CAG>GAG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. CHEK2 Gln27Glu was not observed at a significant frequency in large population cohorts (Lek 2016, The 1000 Genomes Consortium 2015, NHLBI Exome Sequencing Project). Since Glutamine and Glutamic Acid differ in some properties, this is considered a semi-conservative amino acid substitution. CHEK2 Gln27Glu occurs at a position that is not conserved and is located in the SQ/TQ region (Desrichard 2011). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether CHEK2 Gln27Glu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
GenomeConnect, ClinGen RCV000509464 SCV000607209 not provided Hereditary cancer no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.