ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8793T>A (p.Cys2931Ter) (rs1555143494)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522033 SCV000617378 likely pathogenic not provided 2017-04-20 criteria provided, single submitter clinical testing This variant is denoted ATM c.8793T>A at the cDNA level and p.Cys2931Ter (C2931X) at the protein level. The substitution creates a nonsense variant, which changes a Cysteine to a premature stop codon (TGT>TGA), 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 an individual with Ataxia-telangiectasia who also carried a canonical splice variant in ATM; however, phase was not determined (Sandoval 1999). Based on currently available evidence, we consider ATM c.8793T>A to be a likely pathogenic variant.
Invitae RCV000539551 SCV000622854 pathogenic Ataxia-telangiectasia syndrome 2018-07-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys2931*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with breast cancer (PMID: 26556299), and has been reported as biallelic with another pathogenic ATM variant in an individual affected with ataxia telangiectasia (PMID: 9887333). ClinVar contains an entry for this variant (Variation ID: 449347). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.

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