ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6108T>C (p.Tyr2036=) (rs3092826)

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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 RCV000165201 SCV000215913 likely benign Hereditary cancer-predisposing syndrome 2014-07-30 criteria provided, single submitter clinical testing
Color RCV000165201 SCV000682308 likely benign Hereditary cancer-predisposing syndrome 2015-10-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586950 SCV000694318 likely benign not provided 2016-06-27 criteria provided, single submitter clinical testing Variant summary: The ATM c.6108T>C (p.Tyr2036Tyr) 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 the creation of two ESE binding sites, 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 27/121202 (1/4488), predominantly in the East Asian cohort, 25/8596 (1/343), which does not exceed the estimated maximal expected allele frequency for a pathogenic ATM variant for Ataxia-Telangiectasia, however, it does exceed it for ATM related Breast Cancer of 1/2000. Therefore, suggesting the variant of interest could be a common polymorphism found in population(s) of East Asian origin. In addition, multiple reputable clinical laboratories cite the variant as "likely benign/benign." Therefore, the variant of interest has been classified as Likely Benign.
Invitae RCV000205465 SCV000261837 benign Ataxia-telangiectasia syndrome 2017-12-29 criteria provided, single submitter clinical testing

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