ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.749G>A (p.Arg250Gln) (rs56123940)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129173 SCV000183906 likely benign Hereditary cancer-predisposing syndrome 2017-08-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other strong data supporting benign classification
Color RCV000129173 SCV000910702 likely benign Hereditary cancer-predisposing syndrome 2015-08-05 criteria provided, single submitter clinical testing
Counsyl RCV000204231 SCV000799869 uncertain significance Ataxia-telangiectasia syndrome 2018-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000211952 SCV000209681 likely benign not specified 2018-03-12 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.
GeneKor MSA RCV000129173 SCV000821872 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000204231 SCV000259752 uncertain significance Ataxia-telangiectasia syndrome 2018-12-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 250 of the ATM protein (p.Arg250Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs56123940, ExAC 0.02%). This variant has been reported in individuals affected with breast and renal cancer (PMID: 19404735, 17344846). ClinVar contains an entry for this variant (Variation ID: 140915). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The glutamine amino acid residue is also found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.
Mendelics RCV000204231 SCV000838477 uncertain significance Ataxia-telangiectasia syndrome 2018-07-02 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.