ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2838+9C>G

gnomAD frequency: 0.00003  dbSNP: rs370160823
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000198514 SCV000252950 likely benign Ataxia-telangiectasia syndrome 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV004700594 SCV000517981 likely pathogenic not provided 2024-03-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Color Diagnostics, LLC DBA Color Health RCV000579471 SCV000682081 likely benign Hereditary cancer-predisposing syndrome 2017-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000579471 SCV003911251 likely pathogenic Hereditary cancer-predisposing syndrome 2023-12-01 criteria provided, single submitter clinical testing The c.2838+9C>G intronic variant results from a C to G substitution 9 nucleotides after coding exon 17 in the ATM gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). Another alteration impacting the same donor site (c.2838+1G>A) has been shown to have a similar impact on splicing in RNA studies (Ambry internal data) and has been reported in multiple individuals diagnosed with ataxia telangiectasia (A-T) (Buzin CH et al. Hum Mutat, 2003 Feb;21:123-31; Fusaro M et al. J Allergy Clin Immunol, 2021 02;147:734-737). Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Myriad Genetics, Inc. RCV004589847 SCV005083086 likely benign Familial cancer of breast 2024-05-10 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
PreventionGenetics, part of Exact Sciences RCV004553071 SCV004715137 likely benign ATM-related disorder 2024-03-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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