Gene: ATM ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 CausalMutation CLINVAR The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized. 12552566

2003
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 CausalMutation CLINVAR Functional consequences of ATM sequence variants for chromosomal radiosensitivity. 15101044

2004
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 CausalMutation CLINVAR Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients. 18573109

2008
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 CausalMutation CLINVAR Detection of novel germline mutations for breast cancer in non-BRCA1/2 families. 26094658

2015
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
T 0.810 CausalMutation CLINVAR Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980

1998
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
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
ATM ; C11orf65
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
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Dominant negative ATM mutations in breast cancer families. 11830610

2002
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Computational refinement of functional single nucleotide polymorphisms associated with ATM gene. 22529920

2012
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. 27595995

2016
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Rare variants in the ATM gene and risk of breast cancer. 21787400

2011
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Mutations associated with variant phenotypes in ataxia-telangiectasia. 8755918

1996
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
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
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Attenuated presentation of ataxia-telangiectasia with familial cancer history. 18575927

2008
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
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
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. 19781682

2009
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. 24733792

2014
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Prevalence of deleterious ATM germline mutations in gastric cancer patients. 26506520

2015
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
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
ATM ; C11orf65
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: rs397514577
rs397514577
ATM ; C11orf65
A 0.800 CausalMutation CLINVAR We studied 10 Mennonite patients who carry the c.6200C>A missense mutation (p.A2067D) in the ATM gene, all of whom exhibited a phenotypic variant of ataxia-telangiectasia (A-T) that is characterized by early-onset dystonia and late-onset mild ataxia, as previously described. 25077176

2014
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
A 0.800 CausalMutation CLINVAR Cognitive phenotype in ataxia-telangiectasia. 25037873

2014