ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.1931C>A (p.Ser644Ter) (rs768362387)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222313 SCV000278014 pathogenic Hereditary cancer-predisposing syndrome 2018-09-25 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000482158 SCV000568316 pathogenic not provided 2017-06-08 criteria provided, single submitter clinical testing This variant is denoted ATM c.1931C>A at the cDNA level and p.Ser644Ter (S644X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least one individual with Ataxia-Telangiectasia, in the presumed compound heterozygous state (Li 2000), as well as in individuals with pancreatic and gastric cancer (Grant 2013, Helgason 2015, Roberts 2016). We consider this variant to be pathogenic.
Counsyl RCV000576759 SCV000678107 likely pathogenic Ataxia-telangiectasia syndrome 2017-06-14 criteria provided, single submitter clinical testing
Invitae RCV000576759 SCV000825216 pathogenic Ataxia-telangiectasia syndrome 2019-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser644*) 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 individuals affected with gastric cancer (PMID: 26098866) and pancreatic cancer (PMID: 23561644, 25479140). Additionally this variant has been reported in combination with another ATM variant in an individual affected with ataxia telangiectasia (PMID: 10817650). ClinVar contains an entry for this variant (Variation ID: 233607). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000762815 SCV000893173 pathogenic Familial cancer of breast; Ataxia-telangiectasia syndrome 2018-10-31 criteria provided, single submitter clinical testing

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