ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.1274_1277del (p.Ala425fs)

dbSNP: rs1591523010
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010690 SCV001170923 pathogenic Hereditary cancer-predisposing syndrome 2019-05-16 criteria provided, single submitter clinical testing The c.1274_1277delCAAG pathogenic mutation, located in coding exon 9 of the ATM gene, results from a deletion of 4 nucleotides at nucleotide positions 1274 to 1277, causing a translational frameshift with a predicted alternate stop codon (p.A425Vfs*11). 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 RCV001860649 SCV002133220 pathogenic Ataxia-telangiectasia syndrome 2022-06-19 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: 818769). 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.Ala425Valfs*11) 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).
Baylor Genetics RCV003467592 SCV004212020 likely pathogenic Familial cancer of breast 2023-04-13 criteria provided, single submitter clinical testing

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