ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6910del (p.Glu2304fs)

dbSNP: rs1555119940
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000544734 SCV000622697 pathogenic Ataxia-telangiectasia syndrome 2022-08-12 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: 453648). This premature translational stop signal has been observed in individual(s) with ataxia telangiectasia and/or breast cancer (PMID: 19535770, 32068069). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu2304Serfs*6) 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).
Ambry Genetics RCV003159703 SCV003868834 pathogenic Hereditary cancer-predisposing syndrome 2023-02-23 criteria provided, single submitter clinical testing The c.6910delG pathogenic mutation, located in coding exon 46 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 6910, causing a translational frameshift with a predicted alternate stop codon (p.E2304Sfs*6). This alteration was observed in 1 of 1338 Chinese high-risk breast cancer patients and 1 of 2160 Chinese colorectal cancer patients (Kwong A et al. J Mol Diagn, 2020 Apr;22:544-554; Liao H et al. Am J Cancer Res, 2021 Nov;11:5571-558). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Laboratory for Genotyping Development, RIKEN RCV003159704 SCV002758402 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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