ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.186-7C>T (rs55674039)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580817 SCV000682009 benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
GeneDx RCV000123747 SCV000167090 benign not specified 2013-10-11 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 RCV000589334 SCV000694202 benign not provided 2016-03-25 criteria provided, single submitter clinical testing Variant summary: The c.186-7C>T variant affects a non-conserved intronic nucleotide. Mutation taster predicts benign outcome for this variant. 5/5 programs in Alamut predict no significant effect on RNA splicing sites. ESE finder predicts that this variant may affect ESE site of SRp40. However, these predictions are not validated by experimental studies yet. This variant is found in 149/83742 control chromosomes, predominantly observed in African subpopulation in ExAC with observed MAF of 0.01887 (139/7368 chr, 1 homozygote), This frequency exceeds the maximal expected frequency of a pathogenic allele (0.0005), suggesting this variant is a benign polymorphism especially for Africans. This variant has been reported in multiple pts with different kinds of cancers (including BrC, T-ALL, AML, LS associated cancer, etc.) without strong evidence for causality. In addition, two clinical laboratories via ClinVar classified this variant as benign, without evidence to independently evaluate. Taken together, this variant was classified as Benign.
Invitae RCV000122826 SCV000166083 benign Ataxia-telangiectasia syndrome 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000123747 SCV000805508 benign not specified 2016-10-03 criteria provided, single submitter clinical testing

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