ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.3284+3A>G

dbSNP: rs1591610398
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000798320 SCV000937929 uncertain significance Ataxia-telangiectasia syndrome 2023-03-18 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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: 644412). 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 falls in intron 22 of the ATM gene. It does not directly change the encoded amino acid sequence of the ATM protein. It affects a nucleotide within the consensus splice site.
Ambry Genetics RCV002442645 SCV002611505 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-10 criteria provided, single submitter clinical testing The c.3284+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 21 in the ATM gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321740 SCV004027199 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000798320 SCV002082296 uncertain significance Ataxia-telangiectasia syndrome 2021-03-31 no assertion criteria provided clinical testing
Solve-RD Consortium RCV000798320 SCV005091453 likely pathogenic Ataxia-telangiectasia syndrome 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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