ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8851-2A>G (rs886039647)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255950 SCV000322577 likely pathogenic not provided 2016-06-02 criteria provided, single submitter clinical testing This variant is denoted ATM c.8851-2A>G or IVS61-2A>G and consists of a A>G nucleotide substitution at the -2 position of intron 61 of the ATM gene. This variant is predicted to result in abnormal splicing by destroying a canonical splice acceptor site in intron 61 of the ATM gene. This splicing defect results in a frameshift, likely leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product, resulting in the loss of functional domains. This variant has not, to our knowledge, been published in the literature. Based on the currently available information, we consider ATM c.8851-2A>G to be a likely pathogenic variant.

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