ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8592C>T (p.Tyr2864=) (rs56025670)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000123716 SCV000212941 likely benign Hereditary cancer-predisposing syndrome 2014-07-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000587103 SCV000840966 likely benign not provided 2018-06-06 criteria provided, single submitter clinical testing
Color RCV000123716 SCV000537453 likely benign Hereditary cancer-predisposing syndrome 2015-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000212088 SCV000167059 benign not specified 2014-02-10 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.
Integrated Genetics/Laboratory Corporation of America RCV000587103 SCV000694381 likely benign not provided 2017-07-14 criteria provided, single submitter clinical testing Variant summary: The ATM c.8592C>T (p.Tyr2864Tyr) 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. ESEfinder predicts weakening effect on the binding motif for RNA splicing enhancer SRp55. However, these predictions have yet to be confirmed by functional studies. This variant was found in 50/120442 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.000699 (46/65852) and 0.0009004 (113/125504) in gnomAD. This frequency is approximately equal to the estimated maximal expected allele frequency of a pathogenic ATM variant (0.0010005), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. The variant of interest has been detected in cancer patients including BrC and CLL without strong evidence for causality (Thorstenson_Cancer Res_2003, Bernstein_JNCI_2010, Skowronska_Haematologica_2011). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Taken together, this variant is classified as likely benign, until more functional and clinical studies become available.
Invitae RCV000122888 SCV000166146 likely benign Ataxia-telangiectasia syndrome 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000587103 SCV000805629 likely benign not provided 2017-09-15 criteria provided, single submitter clinical testing

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