ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.4879del (p.Gln1627fs)

dbSNP: rs2135837254
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002258622 SCV002535454 likely pathogenic Hereditary cancer-predisposing syndrome 2021-07-30 criteria provided, single submitter curation
Ambry Genetics RCV002258622 SCV002635603 pathogenic Hereditary cancer-predisposing syndrome 2022-03-02 criteria provided, single submitter clinical testing The c.4879delC pathogenic mutation, located in coding exon 31 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 4879, causing a translational frameshift with a predicted alternate stop codon (p.Q1627Rfs*6). 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.
Fulgent Genetics, Fulgent Genetics RCV002502067 SCV002783405 likely pathogenic Familial cancer of breast; Ataxia-telangiectasia syndrome 2021-10-28 criteria provided, single submitter clinical testing
Invitae RCV003605778 SCV004424049 pathogenic Ataxia-telangiectasia syndrome 2023-01-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1692754). 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.Gln1627Argfs*6) 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).

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