ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) (rs1800056)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 16
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000415872 SCV000602562 benign not provided 2017-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131019 SCV000185946 benign Hereditary cancer-predisposing syndrome 2014-07-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415872 SCV000493585 uncertain significance not provided 2016-07-31 criteria provided, single submitter clinical testing
Color RCV000131019 SCV000292110 benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing
Counsyl RCV000119188 SCV000790511 likely benign Ataxia-telangiectasia syndrome 2017-03-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120127 SCV000226547 benign not specified 2015-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000120127 SCV000167073 benign not specified 2013-09-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000119188 SCV000743724 likely benign Ataxia-telangiectasia syndrome 2014-10-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000119188 SCV000745810 benign Ataxia-telangiectasia syndrome 2015-05-04 no assertion criteria provided clinical testing
ITMI RCV000120127 SCV000084265 not provided not specified 2013-09-19 no assertion provided reference population
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000131019 SCV000679692 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000415872 SCV000694229 benign not provided 2016-04-11 criteria provided, single submitter clinical testing Variant summary: The ATM c.2572T>C variant affects a conserved nucleotide, resulting in an amino acid change from Phe to Leu. 4/4 in-silico tools predict benign outcome for this variant (SNPs&GO not captured due to low reliability index), and a functional test based on p21 gene induction after parallel treatment of leukemic cells with fludarabine and doxorubicinfunctional support a benign outcome (Navrkalova_Haematologica_2013). This variant was found in 1165/126138 control chromosomes (16 homozygotes) at a frequency of 0.0092359, which is about 2 times of the maximal expected frequency of an ATM pathogenic allele (0.0039528), suggesting this variant is benign. The variant was included in several risk association studies, 5/6 of which found no significanct association between the variant and breast cancer, however one association study found a statistically significant association with the F858L polymorphism and chronic lymphocytic leukemia risk, both alone and in combination with the second ATM polymorphism P1054R, which are in strong linkage disequilibrium (Rudd_2006). In addition, clinical laboratories classified this variant as benign. Taken together, this variant was classified as benign.
Invitae RCV000119188 SCV000153925 benign Ataxia-telangiectasia syndrome 2018-01-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120127 SCV000301657 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000131019 SCV000787854 benign Hereditary cancer-predisposing syndrome 2018-08-03 no assertion criteria provided clinical testing
Vantari Genetics RCV000131019 SCV000266990 benign Hereditary cancer-predisposing syndrome 2015-10-13 criteria provided, single submitter 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.