ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8046T>C (p.Thr2682=) (rs876660435)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220713 SCV000277859 likely benign Hereditary cancer-predisposing syndrome 2015-08-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000220713 SCV000687813 likely benign Hereditary cancer-predisposing syndrome 2017-07-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588552 SCV000694368 uncertain significance not provided 2017-03-30 criteria provided, single submitter clinical testing Variant summary: The c.8046T>C (p.Thr2682=) 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, however no functional studies supporting these predictions were published at the time of evaluation. The variant is absent from control population datasets of ExAC and gnomAG (0/121258 and 0/246006 chrs tested, respectively). The variant has not, to our knowledge, been reported in affected individuals via published reports but is cited as Likely Benign by a reputable database/clinical laboratory. Taking together, the variant was classified as VUS-Possibly Benign.

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