ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.815A>G (p.Asn272Ser)

dbSNP: rs1555067189
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001372405 SCV001569056 uncertain significance Ataxia-telangiectasia syndrome 2023-06-19 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1062663). 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 replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 272 of the ATM protein (p.Asn272Ser).
Ambry Genetics RCV002420840 SCV002681770 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-23 criteria provided, single submitter clinical testing The p.N272S variant (also known as c.815A>G), located in coding exon 6 of the ATM gene, results from an A to G substitution at nucleotide position 815. The asparagine at codon 272 is replaced by serine, an amino acid with highly similar properties. This alteration was observed with an allele frequency of 0.0000 in 7,051 unselected female breast cancer patients and was observed with an allele frequency of 0.00009 in 11,241 female controls of Japanese ancestry (Momozawa Y et al. Nat Commun, 2018 10;9:4083). 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.
Baylor Genetics RCV003469615 SCV004212054 uncertain significance Familial cancer of breast 2023-03-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001372405 SCV002086013 uncertain significance Ataxia-telangiectasia syndrome 2021-04-27 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.