ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.3303G>A (p.Lys1101=) (rs925487325)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431655 SCV000512155 likely benign not specified 2015-10-27 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.
Invitae RCV000469560 SCV000558410 likely benign Ataxia-telangiectasia syndrome 2017-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571039 SCV000667910 likely benign Hereditary cancer-predisposing syndrome 2017-05-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000571039 SCV000906734 likely benign Hereditary cancer-predisposing syndrome 2017-09-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000431655 SCV000916540 uncertain significance not specified 2017-10-31 criteria provided, single submitter clinical testing Variant summary: The c.3303G>A (p.Lys1101=) 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 a normal splicing. ESEfinder predicts that it may affect binding of ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 93690 control chromosomes (ExAC). The variant of interest has not, to our knowledge, been reported in affected individuals via published reports, but is cited as Likely Benign by multiple reputable databases/clinical laboratories. Taking together, the variant was classified as VUS-Possibly Benign.

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