Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. 27595995

2016

dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016

dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015

dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR Prevalence of deleterious ATM germline mutations in gastric cancer patients. 26506520

2015

dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. 24733792

2014

dbSNP: rs28904921
rs28904921
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014

dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR Computational refinement of functional single nucleotide polymorphisms associated with ATM gene. 22529920

2012

dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR Rare variants in the ATM gene and risk of breast cancer. 21787400

2011

dbSNP: rs28904921
rs28904921
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010

dbSNP: rs28904921
rs28904921
G 0.800 GeneticVariation CLINVAR Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. 18634022

2009

dbSNP: rs28904921
rs28904921
G 0.800 GeneticVariation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009

dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009

dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. 19781682

2009

dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. 18634022

2009

dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR Attenuated presentation of ataxia-telangiectasia with familial cancer history. 18575927

2008

dbSNP: rs28904921
rs28904921
G 0.800 GeneticVariation CLINVAR Attenuated presentation of ataxia-telangiectasia with familial cancer history. 18575927

2008

dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling. 17001622

2006

dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry. 16958054

2006

dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR Dominant negative ATM mutations in breast cancer families. 11830610

2002

dbSNP: rs28904921
rs28904921
G 0.800 GeneticVariation CLINVAR The kinetics of p53 response was intermediate between normal and classical ataxia telangiectasia cells in both the 7271T-->G and 5762ins137 cells, but interestingly, c-Jun kinase activation following DNA damage was equally deficient in cell lines derived from all the ataxia telangiectasia patients. 11382771

2001

dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR The kinetics of p53 response was intermediate between normal and classical ataxia telangiectasia cells in both the 7271T-->G and 5762ins137 cells, but interestingly, c-Jun kinase activation following DNA damage was equally deficient in cell lines derived from all the ataxia telangiectasia patients. 11382771

2001

dbSNP: rs28904921
rs28904921
G 0.800 GeneticVariation CLINVAR We report, in two A-T families, an ATM mutation (7271T-->G) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 9463314

1998

dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR We report, in two A-T families, an ATM mutation (7271T-->G) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=. 9463314

1998

dbSNP: rs28904921
rs28904921
G 0.800 GeneticVariation CLINVAR Mutations associated with variant phenotypes in ataxia-telangiectasia. 8755918

1996

dbSNP: rs28904921
rs28904921
G 0.800 CausalMutation CLINVAR Mutations associated with variant phenotypes in ataxia-telangiectasia. 8755918

1996