ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8574T>C (p.Thr2858=) (rs786203415)

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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 RCV000166708 SCV000217518 likely benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Color RCV000166708 SCV000687841 likely benign Hereditary cancer-predisposing syndrome 2016-04-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779775 SCV000916565 likely benign not specified 2017-12-15 criteria provided, single submitter clinical testing Variant summary: The ATM c.8574T>C (p.Thr2858Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant does not affect any ESE site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/265664 control chromosomes at a frequency of 0.0000038, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0010005). The reported carrier of this variant is >70-year old and cancer free (FLOSSIES database), suggesting the variant of interest does not have a damaging effect. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign.
Invitae RCV000197928 SCV000252987 likely benign Ataxia-telangiectasia syndrome 2017-11-28 criteria provided, single submitter clinical testing

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