ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6382T>C (p.Leu2128=) (rs753646931)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000586986 SCV000602576 likely benign not provided 2017-05-19 criteria provided, single submitter clinical testing The c.6382T>C variant (rs753646931) does not alter the amino acid sequence of the ATM protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with ataxia telangiectasia in medical literature or in gene specific variation databases. This variant is listed in the Exome Aggregation Consortium Browser with an overall population frequency of 0.009 percent (identified on 11 out of 121,200 chromosomes including 1 homozygote) and has been reported to ClinVar (Variation ID: 186642). Based on these observations, the c.6382T>C variant is likely to be benign.
Ambry Genetics RCV000166269 SCV000217050 likely benign Hereditary cancer-predisposing syndrome 2014-10-10 criteria provided, single submitter clinical testing
Color RCV000166269 SCV000682330 likely benign Hereditary cancer-predisposing syndrome 2016-10-17 criteria provided, single submitter clinical testing
GeneDx RCV000432613 SCV000515998 benign not specified 2015-04-15 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.
Illumina Clinical Services Laboratory,Illumina RCV000200503 SCV000367063 uncertain significance Ataxia-telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586986 SCV000694321 likely benign not provided 2016-05-20 criteria provided, single submitter clinical testing Variant summary: The c.6382T>C (p.Leu2128=) in ATM gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however these predictions are yet to be confirmed by the functional studies. The variant is present in the control population dataset of ExAC at frequency of 0.00009 (11/121200 chrs tested) including 1 homozygous occurrence. The variant of interest has not, to our knowledge, been reported in affected individuals via published reports, but is cited as Likely Benign by reputable databases/clinical laboratories. Taken together, the variant was classified as Likely Benign.
Invitae RCV000200503 SCV000252971 likely benign Ataxia-telangiectasia syndrome 2017-12-24 criteria provided, single submitter clinical testing

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