ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2662G>T (p.Glu888Ter)

dbSNP: rs879254083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235692 SCV000293402 likely pathogenic not provided 2016-02-11 criteria provided, single submitter clinical testing This variant is denoted ATM c.2662G>T at the cDNA level and p.Glu888Ter (E888X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA) , and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been identified in the compound heterozygous state in an individual with ataxia telangiectasia (Verhagen 2012) and is considered likely pathogenic.
Myriad Genetics, Inc. RCV004020928 SCV004932235 pathogenic Familial cancer of breast 2024-01-18 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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