ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8802delC (p.Met2935Trpfs) (rs876660567)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218511 SCV000278102 pathogenic Hereditary cancer-predisposing syndrome 2015-08-31 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)
Counsyl RCV000410819 SCV000485455 likely pathogenic Ataxia-telangiectasia syndrome 2015-12-15 criteria provided, single submitter clinical testing
GeneDx RCV000657195 SCV000778920 pathogenic not provided 2018-01-26 criteria provided, single submitter clinical testing This deletion of one nucleotide in ATM is denoted c.8802delC at the cDNA level and p.Met2935TrpfsX3 (M2935WfsX3) at the protein level. The normal sequence, with the base that is deleted in brackets, is AAAC[delC]ATGG. The deletion causes a frameshift which changes a Methionine to a Tryptophan at codon 2935, 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 through either protein truncation or nonsense-mediated mRNA decay. ATM c.8802delC has been observed in the compound heterozygous state in at least one patient with Ataxia-Telangiectasia (Li 2000). We consider this variant to be pathogenic.

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