ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.6215G>C (p.Gly2072Ala)

gnomAD frequency: 0.00001  dbSNP: rs1183544857
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694473 SCV000822921 uncertain significance Ataxia-telangiectasia syndrome 2023-11-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2072 of the ATM protein (p.Gly2072Ala). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 572949). 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. 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.
Color Diagnostics, LLC DBA Color Health RCV001191949 SCV001359891 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV001191949 SCV002655364 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-09 criteria provided, single submitter clinical testing The p.G2072A variant (also known as c.6215G>C), located in coding exon 42 of the ATM gene, results from a G to C substitution at nucleotide position 6215. The glycine at codon 2072 is replaced by alanine, an amino acid with similar properties. This alteration was detected in 1/5589 German BRCA1/2-negative probands with breast cancer (Hauke J et al. Cancer Med, 2018 04;7:1349-1358). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004569322 SCV005057102 uncertain significance Familial cancer of breast 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV004768576 SCV005377148 uncertain significance not provided 2023-11-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an individual with breast cancer (PMID: 29522266); This variant is associated with the following publications: (PMID: 29522266, 23532176)
Natera, Inc. RCV000694473 SCV002081046 uncertain significance Ataxia-telangiectasia syndrome 2021-03-17 no assertion criteria provided clinical testing

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