ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1037_1040del (p.Ile346fs)

dbSNP: rs2135268548
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001386149 SCV001586281 pathogenic Ataxia-telangiectasia syndrome 2020-02-26 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of ataxia-telangiectasia (PMID: 15880721). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile346Asnfs*2) 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). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV004037677 SCV004932605 pathogenic Familial cancer of breast 2024-01-11 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Ambry Genetics RCV004037678 SCV005035916 pathogenic Hereditary cancer-predisposing syndrome 2023-11-01 criteria provided, single submitter clinical testing The c.1037_1040delTTGA pathogenic mutation, located in coding exon 7 of the ATM gene, results from a deletion of 4 nucleotides at nucleotide positions 1037 to 1040, causing a translational frameshift with a predicted alternate stop codon (p.I346Nfs*2). This variant has been identified in an individual with clinical features of ataxia-telangiectasia (Birrell GW et al. Hum Mutat, 2005 Jun;25:593). 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.

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