ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)

dbSNP: rs1555142845
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000576664 SCV000678104 likely pathogenic Ataxia-telangiectasia syndrome 2017-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000576664 SCV000941573 pathogenic Ataxia-telangiectasia syndrome 2021-04-04 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 487447). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg2909*) 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 RCV002448810 SCV002682302 pathogenic Hereditary cancer-predisposing syndrome 2020-01-02 criteria provided, single submitter clinical testing The p.R2909* pathogenic mutation (also known as c.8725A>T), located in coding exon 59 of the ATM gene, results from an A to T substitution at nucleotide position 8725. This changes the amino acid from an arginine to a stop codon within coding exon 59. 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 RCV003459413 SCV004213944 likely pathogenic Familial cancer of breast 2021-12-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003459413 SCV004931322 pathogenic Familial cancer of breast 2024-02-05 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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