ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7566A>G (p.Gln2522=) (rs775621333)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574825 SCV000660454 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-17 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,Insufficient or conflicting evidence
Color RCV000574825 SCV000904734 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-09 criteria provided, single submitter clinical testing
GeneDx RCV000483209 SCV000565740 uncertain significance not provided 2018-08-28 criteria provided, single submitter clinical testing This variant is denoted ATM c.7566A>G at the DNA level. It is silent at the coding level, preserving a Glutamine at codon 2522. In silico analyses, which include splice predictors and evolutionary conservation, are inconsistent in their assessment as to whether or not the variant is damaging.? This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. This variant was not observed at a significant allele frequency in large population cohorts (Lek 2016). Based on currently available evidence, it is unclear whether ATM c.7566A>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000206378 SCV000260869 uncertain significance Ataxia-telangiectasia syndrome 2018-12-14 criteria provided, single submitter clinical testing This sequence change affects codon 2522 of the ATM mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATM protein. This variant is present in population databases (rs775621333, ExAC 0.05%). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 220378). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional 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.

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