ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.9112del (p.Gln3038fs) (rs587779878)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115276 SCV000149185 pathogenic not provided 2014-01-07 criteria provided, single submitter clinical testing This pathogenic variant is denoted ATM c.9112delC at the cDNA level and p.Gln3038ArgfsX3 (Q3038RfsX3) at the protein level. The normal sequence, with the base that is deleted in brackets, is ACAG[delC]AGGC. The deletion causes a frameshift, which changes a Glutamine to an Arginine at codon 3038, and creates a premature stop codon at position 3 of the new reading frame. This variant is predicted to cause loss of normal protein function via protein truncation. ATM c.9112delC has not, to our knowledge, been previously published as a mutation or a polymorphism. Even though this nonsense variant is in the last exon of the gene, its location within the FATC functional domain and the presence of reported mutations downstream of this one (per HGMD) both support a classification of pathogenic.

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