ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8265T>G (p.Tyr2755Ter) (rs758654836)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000237049 SCV000293441 pathogenic not provided 2015-12-07 criteria provided, single submitter clinical testing This pathogenic variant is denoted ATM c.8265T>G at the cDNA level and p.Tyr2755Ter (Y2755X) at the protein level. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAT>TAG) , and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least one case of early onset breast cancer (Churpek 2015) and is considered pathogenic.

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