ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1549A>T (p.Thr517Ser)

dbSNP: rs1555911631
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 RCV000565900 SCV000661704 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-05 criteria provided, single submitter clinical testing The p.T517S variant (also known as c.1549A>T), located in coding exon 14 of the CHEK2 gene, results from an A to T substitution at nucleotide position 1549. The threonine at codon 517 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000635936 SCV000757363 uncertain significance Familial cancer of breast 2022-11-09 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 479537). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 517 of the CHEK2 protein (p.Thr517Ser).
Color Diagnostics, LLC DBA Color Health RCV000565900 SCV000913055 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-20 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.