ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.5208T>C (p.Tyr1736=)

gnomAD frequency: 0.34166  dbSNP: rs2227931
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000145318 SCV000192395 likely benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000271882 SCV000441420 benign Seckel syndrome 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589245 SCV000697786 benign not provided 2016-04-27 criteria provided, single submitter clinical testing Variant summary: The c.5208C>T in ATR gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing. The variant is present in the control population dataset of ExAC at frequency of 36%. The observed frequency exceeds the maximum expected allele frequency for a pathogenic variant of 0.00006% in this gene, suggesting that it is a benign common polymorphism. The variant of interest has been reported as Benign/Polymorphism by a clinical laboratory and a published report (Durocher et al., 2006). Taken together, based on the prevalence in general population the variant was classified as Benign.
Invitae RCV000589245 SCV001729234 benign not provided 2021-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000589245 SCV001902916 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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