ClinVar Miner

Submissions for variant NM_001184.4(ATR):c.7875G>A (p.Gln2625=)

gnomAD frequency: 0.88595  dbSNP: rs1802904
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000079601 SCV000111483 benign not specified 2013-05-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000079601 SCV000192411 likely benign not specified 2013-04-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000366216 SCV000441390 benign Seckel syndrome 1 2018-01-12 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.
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000079601 SCV000538376 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588079 SCV000697788 benign not provided 2016-04-26 criteria provided, single submitter clinical testing Variant summary: The c.7875G>A variant affects a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts polymorphism outcome for this variant. 3/5 programs in Alamut predict that this variant does not affect normal splicing. ESE finder predicts changes of binding motifs for splicing enhancers. However, these predictions are not confirmed by experimental studies. This variant is found in 104951/121386 control chromosomes (45665 homozygotes) at a frequency of 0.8646055, which is about 1383368 times of the maximal expected frequency of a pathogenic allele (0.0000006) in this gene. Taking together, based on the prevalence of this variant in general population the variant was classified as Benign.
Invitae RCV000588079 SCV001729232 benign not provided 2021-12-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000366216 SCV001775060 benign Seckel syndrome 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000588079 SCV001944573 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000079601 SCV001742135 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000079601 SCV001973531 benign not specified no assertion criteria provided clinical testing

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