ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8450A>G (p.Tyr2817Cys) (rs747764678)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204381 SCV000260404 uncertain significance Ataxia-telangiectasia syndrome 2018-07-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 2817 of the ATM protein (p.Tyr2817Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs747764678, ExAC 0.01%). This variant has been reported in an individual affected with breast cancer (PMID: 26824983). ClinVar contains an entry for this variant (Variation ID: 220111). 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 disruptive, but these predictions have not been confirmed by published functional studies. 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.
Ambry Genetics RCV000566655 SCV000660650 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Counsyl RCV000204381 SCV000790625 uncertain significance Ataxia-telangiectasia syndrome 2017-03-30 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000566655 SCV000787883 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-11 no assertion criteria provided 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.