ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter)

dbSNP: rs1060501695
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480590 SCV000566956 pathogenic not provided 2019-08-07 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek 2016); Observed in individuals with breast cancer (Renault 2018); This variant is associated with the following publications: (PMID: 25525159, 15280931, 15101044, 8845835, 15390180, 12745884, 14970866, 29665859)
Labcorp Genetics (formerly Invitae), Labcorp RCV000627965 SCV000748851 pathogenic Ataxia-telangiectasia syndrome 2023-02-26 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ataxia-telangiectasia (PMID: 8845835). ClinVar contains an entry for this variant (Variation ID: 419265). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln2714*) 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 RCV001027217 SCV001189735 pathogenic Hereditary cancer-predisposing syndrome 2024-03-08 criteria provided, single submitter clinical testing The p.Q2714* pathogenic mutation (also known as c.8140C>T), located in coding exon 54 of the ATM gene, results from a C to T substitution at nucleotide position 8140. This changes the amino acid from a glutamine to a stop codon within coding exon 54. This alteration has reported in the homozygous and compound heterozygous state in individuals diagnosed with ataxia telangiectasia (Gilad S et al. Hum. Mol. Genet. 1996 Apr;5:433-9; Cavaciuti E et al. Genes Chromosomes Cancer 2005 Jan;42:1-9). Functional studies have demonstrated increased radiosensitivity and decreased mRNA expression in cell lines containing this alteration in the homozygous/compound heterozygous state or heterozygous state (Fernet M et al. Int. J. Radiat. Biol., 2003 Mar;79:193-202; Gutiérrez-Enríquez S et al. Genes Chromosomes Cancer 2004 Jun;40:109-19). 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.
Baylor Genetics RCV003155945 SCV004212123 pathogenic Familial cancer of breast 2023-01-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492069 SCV004239527 pathogenic Breast and/or ovarian cancer 2023-05-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003155945 SCV004932394 pathogenic Familial cancer of breast 2024-02-01 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000480590 SCV001808436 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000480590 SCV001906340 pathogenic not provided no assertion criteria provided clinical testing
BRCAlab, Lund University RCV003155945 SCV002589041 pathogenic Familial cancer of breast 2022-08-26 no assertion criteria provided clinical testing
Laboratory for Genotyping Development, RIKEN RCV003168944 SCV002758110 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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