ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7836_7837GA[3] (p.Pro2614fs) (rs730881293)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159622 SCV000209608 pathogenic not provided 2014-12-12 criteria provided, single submitter clinical testing This duplication of 2 nucleotides is denoted ATM c.7838_7839dupGA at the cDNA level and p.Pro2614AspfsX18 (P2614DfsX18) at the protein level. The normal sequence, with the bases that are duplicated in brackets, is AGGA[GA]CCTC. The duplication causes a frameshift, which changes a Proline to an Aspartic Acid at codon 2614, and creates a premature stop codon at position 18 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 RCV000470648 SCV000547153 pathogenic Ataxia-telangiectasia syndrome 2019-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro2614Aspfs*18) 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 been observed in an individual affected with breast cancer (PMID: 26681312). ClinVar contains an entry for this variant (Variation ID: 181864). Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000470648 SCV000678105 likely pathogenic Ataxia-telangiectasia syndrome 2017-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026860 SCV001189327 pathogenic Hereditary cancer-predisposing syndrome 2019-03-28 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)

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