ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2805G>T (p.Thr935=) (rs55934812)

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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 RCV000221094 SCV000274974 likely benign Hereditary cancer-predisposing syndrome 2015-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000419582 SCV000512148 benign not specified 2015-05-05 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 RCV000538068 SCV000622363 likely benign Ataxia-telangiectasia syndrome 2017-09-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588609 SCV000694236 uncertain significance not provided 2016-07-15 criteria provided, single submitter clinical testing Variant summary: The ATM c.2805G>T (p.Thr935Thr) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predicting no significant impact on splicing and ESE finder predicting alterations to ESE binding, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2/121396 (1/60698), predominantly in the African cohort, 2/10404 (1/5202), which does not exceed the estimated maximal expected allele frequency for a pathogenic ATM variant of 1/252 for Ataxia-Telangiectasia. The variant of interest has been reported in affected individuals via publications, although with limited information (ie, lack of co-occurrence and cosegregation data). A reputable clinical laboratory cites the variant as "likely benign." Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as VUS-possibly benign until additional information becomes available.

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