ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8325del (p.Ile2776fs) (rs886039623)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000494589 SCV000581457 pathogenic Hereditary cancer-predisposing syndrome 2016-02-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000255611 SCV000322542 pathogenic not provided 2017-11-29 criteria provided, single submitter clinical testing This deletion of one nucleotide in ATM is denoted c.8325delC at the cDNA level and p.Ile2776LeufsX30 (I2776LfsX30) at the protein level. The normal sequence, with the base that is deleted in brackets, is TCCC[delC]ATTG. The deletion causes a frameshift which changes an Isoleucine to a Leucine at codon 2776, and creates a premature stop codon at position 30 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 8325delC, published as ATM 8322*>-C using alternate nomenclature, has been observed in at least one individual with breast cancer (Aloraifi 2015). We consider this variant to be pathogenic.

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