ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8135_8139del (p.Arg2712fs)

dbSNP: rs2136663735
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001915239 SCV002170563 pathogenic Ataxia-telangiectasia syndrome 2021-03-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2712Thrfs*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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ATM-related conditions. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV002422999 SCV002678800 pathogenic Hereditary cancer-predisposing syndrome 2019-07-17 criteria provided, single submitter clinical testing The c.8135_8139delGGAGA pathogenic mutation, located in coding exon 54 of the ATM gene, results from a deletion of 5 nucleotides at nucleotide positions 8135 to 8139, causing a translational frameshift with a predicted alternate stop codon (p.R2712Tfs*4). 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.
Myriad Genetics, Inc. RCV003452097 SCV004186999 pathogenic Familial cancer of breast 2023-08-22 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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