ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2251-4A>G (rs786202935)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166010 SCV000216769 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000658621 SCV000569657 uncertain significance not provided 2018-07-20 criteria provided, single submitter clinical testing This variant is denoted ATM c.2251-4A>G or IVS14-4A>G and consists of an A>G nucleotide substitution at the -4 position of intron 14 of the ATM gene. In-silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. This variant was not observed in large population cohorts (Lek 2016). Based on currently available evidence, it is unclear whether ATM c.2251-4A>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000628167 SCV000749060 uncertain significance Ataxia-telangiectasia syndrome 2018-10-23 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the ATM gene. It does not directly change the encoded amino acid sequence of the ATM protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 186418). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658621 SCV000780401 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
GeneKor MSA RCV000166010 SCV000821835 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing

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