ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002459842 SCV002737334 pathogenic Hereditary cancer-predisposing syndrome 2022-05-14 criteria provided, single submitter clinical testing The p.S809* pathogenic mutation (also known as c.2426C>G), located in coding exon 15 of the ATM gene, results from a C to G substitution at nucleotide position 2426. This changes the amino acid from a serine to a stop codon within coding exon 15. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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 RCV003465757 SCV004212039 likely pathogenic Familial cancer of breast 2023-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003605844 SCV004436173 pathogenic Ataxia-telangiectasia syndrome 2023-02-01 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: 1791095). This premature translational stop signal has been observed in individual(s) with pancreatic cancer (PMID: 29945567). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser809*) 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).
Myriad Genetics, Inc. RCV003465757 SCV004932525 pathogenic Familial cancer of breast 2024-01-17 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.

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