ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.9039dup (p.Gln3014fs) (rs879253972)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236149 SCV000293002 pathogenic not provided 2015-07-16 criteria provided, single submitter clinical testing This duplication of one nucleotide in ATM is denoted c.9039dupA at the cDNA level and p.Gln3014ThrfsX49 (Q3014TfsX49) at the protein level. The normal sequence, with the base that is duplicated in braces, is GACT[A]CAAG. The duplication causes a frameshift, which changes a Glutamine to a Threonine at codon 3014 in exon 63, and creates a premature stop codon at position 49 of the new reading frame. This variant has not, to our knowledge, been reported in the literature. Even though this frameshift occurs in the last exon of the gene, and nonsense-mediated decay is not expected to occur, it is significant since the last 43 amino acids are replaced with 48 incorrect amino acids and impacts the FATC domain (Tavtigian 2009, Stracker 2013). We consider this variant to be pathogenic.

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