ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8292_8293del (p.Ser2764fs) (rs879254036)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566679 SCV000665273 pathogenic Hereditary cancer-predisposing syndrome 2016-11-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000236646 SCV000293246 likely pathogenic not provided 2015-10-09 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in ATM is denoted c.8292_8293delTG at the cDNA level and p.Ser2764ArgfsX4 (S2764RfsX4) at the protein level. The normal sequence, with the bases that are deleted in braces, is GAAG[TG]GTGT. The deletion causes a frameshift, which changes a Serine to an Arginine at codon 2764, and creates a premature stop codon at position 4 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 deletion to be a likely pathogenic variant.
Invitae RCV000477401 SCV000547148 pathogenic Ataxia-telangiectasia syndrome 2018-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2764Argfs*4) 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 disease. ClinVar contains an entry for this variant (Variation ID: 245989). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000477401 SCV000838613 pathogenic Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing

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