ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2921+2T>G

gnomAD frequency: 0.00001  dbSNP: rs2135549026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953540 SCV002240518 pathogenic Ataxia-telangiectasia syndrome 2021-05-31 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Disruption of this splice site has been observed in individual(s) with clinical features of ataxia telangiectasia (PMID: 11298136, 8845835). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 19 of the ATM gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596502 SCV005090170 pathogenic not provided 2025-03-04 criteria provided, single submitter clinical testing

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