ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.7010_7065dup (p.Ile2356delinsValTer) (rs1555120985)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000295592 SCV000330737 pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing This duplication of 56 nucleotides in ATM is denoted c.7010_7065dup56 at the cDNA level and p.Ile2356ValfsX2 (I2356VfsX2) at the protein level. The surrounding sequence is GAAT[dup56]ATCA. The duplication causes a frameshift which changes an Isoleucine to a Valine at codon 2356, and creates a premature stop codon at position 2 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. ATM c.7010_7065dup56 was reported in two siblings with pancreatic cancer from a kindred with pancreatic, colon, breast, and other cancer diagnoses (Barnes 2017). Based on the currently available information, we consider this duplication to be pathogenic.

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