ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6486C>T (p.Ser2162=) (rs138166710)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572461 SCV000660571 likely benign Hereditary cancer-predisposing syndrome 2016-03-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000572461 SCV000906722 likely benign Hereditary cancer-predisposing syndrome 2018-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000419194 SCV000529905 likely benign not specified 2016-07-12 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.
Integrated Genetics/Laboratory Corporation of America RCV000419194 SCV000918546 uncertain significance not specified 2018-05-25 criteria provided, single submitter clinical testing Variant summary: ATM c.6486C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2.2e-05 in 277182 control chromosomes. This frequency is not higher than expected for a pathogenic variant in ATM causing Ataxia-Telangiectasia (2.2e-05 vs 0.004), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.6486C>T in individuals affected with Ataxia-Telangiectasia or Breast cancer and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000530712 SCV000622670 likely benign Ataxia-telangiectasia syndrome 2017-03-26 criteria provided, single submitter clinical testing

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