ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7391_7412del (p.Cys2464fs) (rs1064794690)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482167 SCV000569730 likely pathogenic not provided 2016-03-26 criteria provided, single submitter clinical testing This deletion of 22 nucleotides in ATM is denoted c.7391_7412del22 at the cDNA level and p.Cys2464SerfsX5 (C2464SfsX5) at the protein level. The surrounding sequence is TTAT[del22]CAAC. The deletion causes a frameshift, which changes a Cysteine to a Serine at codon 2464 and creates a premature stop codon at position 5 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available evidence, we consider ATM Cys2464SerfsX5 to be a likely pathogenic variant.

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