ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5201_5202insAT (p.Thr1735fs)

dbSNP: rs730881305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159634 SCV000209622 pathogenic not provided 2014-08-28 criteria provided, single submitter clinical testing This insertion of 2 nucleotides in ATM is denoted c.5201_5202insAT at the cDNA level and p.Thr1735LeufsX4 (T1735LfsX4) at the protein level. The normal sequence, with the bases that are inserted in brackets, is CTGT[AT]TACC. The insertion causes a frameshift, which changes a Threonine to a Leucine at codon 1735, 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. we consider this variant to be pathogenic.The presence of
Labcorp Genetics (formerly Invitae), Labcorp RCV003500506 SCV004296153 pathogenic Ataxia-telangiectasia syndrome 2022-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 181876). This premature translational stop signal has been observed in individual(s) with colon polyps (PMID: 26681312). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr1735Leufs*4) 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).

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