ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.5894_5900dup (p.Met1967fs) (rs1555110517)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479472 SCV000568109 likely pathogenic not provided 2015-10-08 criteria provided, single submitter clinical testing This duplication of 7 nucleotides in ATM is denoted c.5894_5900dupAAAGTAT at the cDNA level and p.Met1967IlefsX5 (M1967IfsX5) at the protein level. The normal sequence, with the bases that are duplicated in braces, is AAGA[AAAGTAT]GGAT. The duplication causes a frameshift, which changes a Methionine to an Isoleucine at codon 1967, and creates a premature stop codon at position 5 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. Based on the currently available information, we consider this duplication to be a likely pathogenic variant.
Color RCV000583009 SCV000687649 pathogenic Hereditary cancer-predisposing syndrome 2020-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583009 SCV001186699 pathogenic Hereditary cancer-predisposing syndrome 2019-09-16 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)
Invitae RCV001037468 SCV001200883 pathogenic Ataxia-telangiectasia syndrome 2019-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met1967Ilefs*5) 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 not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 419910). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.

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