ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)

gnomAD frequency: 0.00013  dbSNP: rs145513717
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164332 SCV000214963 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-20 criteria provided, single submitter clinical testing The p.A869G variant (also known as c.2606C>G), located in coding exon 16 of the ATM gene, results from a C to G substitution at nucleotide position 2606. The alanine at codon 869 is replaced by glycine, an amino acid with similar properties. This variant has been identified in an individual with pancreatic cancer (Chaffee KG et al. Genet Med, 2018 01;20:119-127). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000476653 SCV000547002 uncertain significance Ataxia-telangiectasia syndrome 2024-01-30 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 869 of the ATM protein (p.Ala869Gly). This variant is present in population databases (rs145513717, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 184982). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
GeneDx RCV000479991 SCV000570502 uncertain significance not provided 2022-09-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28726808)
Mendelics RCV000476653 SCV000838508 uncertain significance Ataxia-telangiectasia syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000164332 SCV000911326 likely benign Hereditary cancer-predisposing syndrome 2017-01-03 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225480 SCV002505328 likely benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465546 SCV002760535 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467290 SCV004207727 uncertain significance Familial cancer of breast 2023-08-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000476653 SCV002076320 uncertain significance Ataxia-telangiectasia syndrome 2020-03-06 no assertion criteria provided clinical testing

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