ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8036_8051del (p.Asn2679fs) (rs587780640)

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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 RCV000165284 SCV000216001 pathogenic Hereditary cancer-predisposing syndrome 2014-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000657318 SCV000779049 pathogenic not provided 2017-04-26 criteria provided, single submitter clinical testing This deletion of 16 nucleotides in ATM is denoted c.8036_8051del16 at the cDNA level and p.Asn2679SerfsX9 (N2679SfsX9) at the protein level. The surrounding sequence is GGAA[del16]GTCA. The deletion causes a frameshift which changes an Asparagine to a Serine at codon 2679, and creates a premature stop codon at position 9 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Invitae RCV000122885 SCV000166143 pathogenic Ataxia-telangiectasia syndrome 2015-11-14 criteria provided, single submitter clinical testing This sequence change deletes 16 nucleotide from exon 55 of the ATM mRNA (c.8036_8051delATCTGGTGACTATACA), causing a frameshift at codon 2679. This creates a premature translational stop signal (p.Asn2679Serfs*9) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in ATM are known to be pathogenic (PMID: 10817650, 19781682). For these reasons, this variant has been classified as Pathogenic.

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