ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.439A>G (p.Lys147Glu)

gnomAD frequency: 0.00001  dbSNP: rs587782509
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131655 SCV000186682 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-06 criteria provided, single submitter clinical testing The p.K147E variant (also known as c.439A>G), located in coding exon 4 of the ATM gene, results from an A to G substitution at nucleotide position 439. The lysine at codon 147 is replaced by glutamic acid, an amino acid with similar properties. This variant was observed in an individual with early onset-breast cancer amongst a cohort of 1781 non-Ashkenazi Jewish individuals undergoing BRCA1/2 gene testing based on a personal history of breast cancer (Tung N et al. Cancer, 2015 Jan;121:25-33). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001064963 SCV001229900 uncertain significance Ataxia-telangiectasia syndrome 2022-11-25 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 142507). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is present in population databases (rs587782509, gnomAD 0.007%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 147 of the ATM protein (p.Lys147Glu).
Baylor Genetics RCV003467179 SCV004207730 uncertain significance Familial cancer of breast 2023-08-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001064963 SCV002091578 uncertain significance Ataxia-telangiectasia syndrome 2020-10-31 no assertion criteria provided clinical testing

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