ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7927+5delG (rs786204437)

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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 RCV000570113 SCV000665591 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Counsyl RCV000169058 SCV000220220 likely pathogenic Ataxia-telangiectasia syndrome 2014-04-03 criteria provided, single submitter literature only
Invitae RCV000169058 SCV000748854 uncertain significance Ataxia-telangiectasia syndrome 2017-08-16 criteria provided, single submitter clinical testing This sequence change falls in intron 53 of the ATM gene. It does not directly change the encoded amino acid sequence of the ATM protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with ataxia-telangiectasia (PMID: 15390180). This variant is also known as IVS55 _x0005_+5 delG in the literature. ClinVar contains an entry for this variant (Variation ID: 188745). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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