ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.9045_9052dup (p.Lys3018delinsArgAsnTer) (rs1555151827)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483174 SCV000572358 pathogenic not provided 2016-12-06 criteria provided, single submitter clinical testing This duplication of eight nucleotides in ATM is denoted c.9045_9052dupGAAACTGA at the cDNA level and p.Lys3018ArgfsX3 (K3018RfsX3) at the protein level. The normal sequence, with the bases that are duplicated in brackets, is AAGA[dupGAAACTGA]AAGG. The duplication causes a frameshift which changes a Lysine to an Arginine at codon 3018, and creates a premature stop codon at position 3 of the new reading frame. 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 39 amino acids are no longer translated which removes part of the FATC domain (Tavtigian 2009, Stracker 2013). Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through protein truncation. We consider this variant to be pathogenic.

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