ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3034dup (p.Arg1012fs)

dbSNP: rs2135554107
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001892468 SCV002147592 pathogenic Ataxia-telangiectasia syndrome 2023-05-08 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: 1383265). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1012Lysfs*36) 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 RCV002440969 SCV002753195 pathogenic Hereditary cancer-predisposing syndrome 2021-03-15 criteria provided, single submitter clinical testing The c.3034dupA pathogenic mutation, located in coding exon 19 of the ATM gene, results from a duplication of A at nucleotide position 3034, causing a translational frameshift with a predicted alternate stop codon (p.R1012Kfs*36). 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. RCV004041286 SCV004930741 pathogenic Familial cancer of breast 2024-01-18 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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