ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6133del (p.Ala2045fs) (rs1555113762)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562488 SCV000665621 pathogenic Hereditary cancer-predisposing syndrome 2016-11-18 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 RCV000657419 SCV000779154 pathogenic not provided 2018-07-13 criteria provided, single submitter clinical testing This deletion of one nucleotide in ATM is denoted c.6133delG at the cDNA level and p.Ala2045ProfsX2 (A2045PfsX2) at the protein level. The normal sequence, with the base that is deleted in brackets, is CAAA[delG]CCCT. The deletion causes a frameshift which changes an Alanine to a Proline at codon 2045, and creates a premature stop codon at position 2 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.
Invitae RCV000698075 SCV000826717 pathogenic Ataxia-telangiectasia syndrome 2018-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala2045Profs*2) 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: 481310). 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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