ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7701_7702del (p.Asn2567fs)

dbSNP: rs1064793359
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485065 SCV000565904 pathogenic not provided 2015-03-09 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in ATM is denoted c.7701_7702delCA at the cDNA level and p.Asn2567LysfsX3 (N2567KfsX3) at the protein level. The normal sequence, with the bases that are deleted in brackets, is CAAA[CA]GAGA. The deletion causes a frameshift, which changes an Asparagine to a Lysine at codon 2567, and creates a premature stop codon at position 3 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.The presence of
Labcorp Genetics (formerly Invitae), Labcorp RCV001390721 SCV001592522 pathogenic Ataxia-telangiectasia syndrome 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn2567Lysfs*3) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 418675). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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