ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1608-2A>G

dbSNP: rs2135338498
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257220 SCV002532760 likely pathogenic Hereditary cancer-predisposing syndrome 2021-05-21 criteria provided, single submitter curation
Ambry Genetics RCV002257220 SCV005036355 pathogenic Hereditary cancer-predisposing syndrome 2023-10-05 criteria provided, single submitter clinical testing The c.1608-2A>G pathogenic mutation results from an A to G substitution two nucleotides upstream from coding exon 10 in the ATM gene. This nucleotide position is highly conserved in available vertebrate species. This alteration has been reported in trans with a nonsense variant in ATM in a patient affected with ataxia-telangiectasia (Chen Z et al. PLoS One, 2015 Oct;10:e0139738). In silico splice site analysis predicts that this alteration may weaken the native splice acceptor site. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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