ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5320-5_5320-2delTCTA (rs730881310)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000159640 SCV000277203 pathogenic Hereditary cancer-predisposing syndrome 2017-03-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Functionally-validated splicing mutation,Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Counsyl RCV000232019 SCV000678092 likely pathogenic Ataxia-telangiectasia syndrome 2017-03-08 criteria provided, single submitter clinical testing
Invitae RCV000232019 SCV000282988 pathogenic Ataxia-telangiectasia syndrome 2018-12-10 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from intron 35 of the ATM mRNA (c.5320-5_5320-2delTCTA). This sequence change affects the acceptor splice site in intron 35. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. Truncating variants in ATM are known to be pathogenic. This particular variant has been reported with a second pathogenic ATM variant in individuals affected with ataxia-telangiectasia (PMID: 14695534, 8845835) and identified in a breast cancer patient (PMID: 26681312). This variant is also known as IVS37-5delTCTA and as c.5320del7  in the literature. Experimental studies have shown that this sequence change results in the deletion of the first seven nucleotides in exon 38 of the ATM gene (PMID: 14695534). For these reasons, this variant has been classified as Pathogenic.

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