ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8319_8323dup (p.Pro2775fs) (rs1555135596)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474586 SCV000546698 pathogenic Ataxia-telangiectasia syndrome 2019-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro2775Leufs*33) 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 observed in an individual with breast cancer (PMID: 28423363). This variant is also known as c.8318_8322dup in the literature. ClinVar contains an entry for this variant (Variation ID: 407483). 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 RCV001017539 SCV001178630 pathogenic Hereditary cancer-predisposing syndrome 2019-06-03 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)

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