ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.7189C>G (p.Gln2397Glu)

gnomAD frequency: 0.00001  dbSNP: rs747372355
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583472 SCV000687758 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000806166 SCV000946150 uncertain significance Ataxia-telangiectasia syndrome 2023-06-25 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 490690). This missense change has been observed in individual(s) with prostate cancer (PMID: 32853339). This variant is present in population databases (rs747372355, gnomAD 0.003%). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 2397 of the ATM protein (p.Gln2397Glu).
Sema4, Sema4 RCV000583472 SCV002537031 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-18 criteria provided, single submitter curation
Ambry Genetics RCV000583472 SCV002668520 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-13 criteria provided, single submitter clinical testing The p.Q2397E variant (also known as c.7189C>G), located in coding exon 48 of the ATM gene, results from a C to G substitution at nucleotide position 7189. The glutamine at codon 2397 is replaced by glutamic acid, an amino acid with highly similar properties. This variant was reported in 1/60,466 breast cancer cases and in 0/53,461 controls (Dorling et al. N Engl J Med, 2021 02;384:428-439). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004568287 SCV005057121 uncertain significance Familial cancer of breast 2023-12-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000806166 SCV002082510 uncertain significance Ataxia-telangiectasia syndrome 2019-10-28 no assertion criteria provided clinical testing

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