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
Invitae RCV000122885 SCV000166143 pathogenic Ataxia-telangiectasia syndrome 2019-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn2679Serfs*9) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with hereditary breast and ovarian cancer (PMID: 26270727). This variant has also been reported as c.8035_8050del. ClinVar contains an entry for this variant (Variation ID: 185795). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
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.

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