ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6312G>A (p.Trp2104Ter) (rs1555114766)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Yang An-Suei Laboratory,Academia Sinica RCV000504615 SCV000583422 pathogenic Neoplasm of the breast criteria provided, single submitter clinical testing
GeneDx RCV000657734 SCV000779484 likely pathogenic not provided 2017-09-07 criteria provided, single submitter clinical testing This variant is denoted ATM c.6312G>A at the cDNA level and p.Trp2104Ter (W2104X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic.

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