ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter)

dbSNP: rs2135644009
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249280 SCV002518536 pathogenic Familial cancer of breast 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325713 SCV002606672 pathogenic Hereditary cancer-predisposing syndrome 2020-08-20 criteria provided, single submitter clinical testing The p.Q1116* pathogenic mutation (also known as c.3346C>T), located in coding exon 22 of the ATM gene, results from a C to T substitution at nucleotide position 3346. This changes the amino acid from a glutamine to a stop codon within coding exon 22. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003500691 SCV004332079 pathogenic Ataxia-telangiectasia syndrome 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1116*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 1685553). For these reasons, this variant has been classified as Pathogenic.

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