ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.370A>G (p.Ile124Val)

gnomAD frequency: 0.00215  dbSNP: rs148590073
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000679113 SCV000149087 likely benign not provided 2021-03-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22952040, 11505391, 17333338, 19781682, 12673804, 25980754, 12552559)
Invitae RCV000122843 SCV000166101 benign Ataxia-telangiectasia syndrome 2021-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000115178 SCV000186563 likely benign Hereditary cancer-predisposing syndrome 2018-09-07 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
PreventionGenetics,PreventionGenetics RCV000254228 SCV000301663 likely benign not specified criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000115178 SCV000682156 likely benign Hereditary cancer-predisposing syndrome 2015-03-04 criteria provided, single submitter clinical testing
Counsyl RCV000122843 SCV000797247 likely benign Ataxia-telangiectasia syndrome 2018-01-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679113 SCV000805541 likely benign not provided 2015-09-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000254228 SCV000916543 benign not specified 2017-09-07 criteria provided, single submitter clinical testing Variant summary: The ATM c.370A>G (p.Ile124Val) variant involves the alteration of a non-conserved nucleotide. 5/5 in silico tools predict a benign outcome for this variant . This variant was found in 93/126020 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.007634 (79/10348). This frequency is about 8 times 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 African origin. This missense mutation has been observed in cancer patients without significant evidence for a causal role in disease (e.g. co-segregation data were not provided). In at least one ataxia-telangiectasia patient the variant co-occured with two other mutations predicted to be causative for ataxia-telangiectasia (Buzin_2003). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign, and most peer reviewed publications consider the variant a polymorphism. Taken together, this variant is classified as benign.
Athena Diagnostics Inc RCV000679113 SCV001143105 benign not provided 2019-06-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000679113 SCV001148398 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000679113 SCV001157708 benign not provided 2021-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000122843 SCV001260304 benign Ataxia-telangiectasia syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genetic Services Laboratory,University of Chicago RCV000254228 SCV002070846 likely benign not specified 2021-07-23 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000115178 SCV002536573 benign Hereditary cancer-predisposing syndrome 2020-09-10 criteria provided, single submitter curation
Clinical Genetics, Academic Medical Center RCV000679113 SCV002034376 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000679113 SCV002037406 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000679113 SCV002037917 likely benign not provided no assertion criteria provided clinical testing

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