ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8565T>G (p.Ser2855Arg) (rs780905851)

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 RCV000220309 SCV000275237 likely pathogenic Hereditary cancer-predisposing syndrome 2016-10-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other strong data supporting pathogenic classification,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Color RCV000220309 SCV000911614 likely pathogenic Hereditary cancer-predisposing syndrome 2018-05-14 criteria provided, single submitter clinical testing
Invitae RCV000695412 SCV000823909 uncertain significance Ataxia-telangiectasia syndrome 2018-11-27 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 2855 of the ATM protein (p.Ser2855Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs780905851, ExAC 0.001%). This variant has been reported in individuals affected with gastric cancer and ataxia-telangiectasia (PMID: 26506520, 10425038). ClinVar contains an entry for this variant (Variation ID: 231399). 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 and their clinical significance is uncertain. 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.

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.