ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8532T>C (p.Ile2844=) (rs730881278)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000159598 SCV000215925 likely benign Hereditary cancer-predisposing syndrome 2014-08-04 criteria provided, single submitter clinical testing
Color RCV000159598 SCV000687839 likely benign Hereditary cancer-predisposing syndrome 2017-02-16 criteria provided, single submitter clinical testing
GeneDx RCV000212085 SCV000209581 benign not specified 2014-06-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000212085 SCV000916560 uncertain significance not specified 2017-09-28 criteria provided, single submitter clinical testing Variant summary: The ATM c.8532T>C (p.Ile2844Ile) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may eliminate an ESE binding site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 9/276972 control chromosomes at a frequency of 0.0000325, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0010005). A publication, Bernstein_2010, cites the variant in an individual with limited information (ie, lack of phenotypic, co-occurrence and cosegregation data). However, multiple clinical diagnostic laboratories classified this variant as likely benign/benign. Taken together, this variant is classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000231198 SCV000283085 likely benign Ataxia-telangiectasia syndrome 2017-10-24 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.