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rs28904921

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 7 ~8 fold increase in relative risk for breast cancer
(T;T) 0 common in complete genomics


Make rs28904921(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position108329202
GeneATM
is asnp
is mentioned by
dbSNPrs28904921
ebirs28904921
HLIrs28904921
Exacrs28904921
Varsomers28904921
Maprs28904921
PheGenIrs28904921
hapmaprs28904921
1000 genomesrs28904921
hgdprs28904921
ensemblrs28904921
gopubmedrs28904921
geneviewrs28904921
scholarrs28904921
googlers28904921
pharmgkbrs28904921
gwascentralrs28904921
openSNPrs28904921
23andMers28904921
23andMe allrs28904921
SNP Nexus

SNPshotrs28904921
SNPdbers28904921
MSV3drs28904921
GWAS Ctlgrs28904921
Max Magnitude7

rs28904921, also known as c.7271T>G, p.Val2424Gly and V2424G, is a mutation in the ATM gene on chromosome 11.

Although most high risk (causative) mutations for cancers prematurely truncate encoded proteins [PMID 26014596OA-icon.png], the rs28904921(G) mutation is a missense variant that appears to lead to a quite high relative risk for breast cancer (relative risk increase of 8.0, CI: 2.8 to 22.5, p=0.0005). In contrast to most BRCA mutations, which are considered tumor suppressors and functionally recessive, this ATM mutation is considered a dominant negative, since loss of the wild-type allele in tumors with the ATM mutation is not consistently observed.[PMID 21787400OA-icon.png]

Note that the confidence intervals are quite large, so although the relative risk is calculated as increasing eight-fold, the authors cited indicate that they can only state with 95% confidence that the "true" increase in relative risk lies somewhere between 2.8 and 22.5.

Somewhat similarly, a 2016 publication study involving 42,000 breast cancer cases concluded that rs28904921(G) carriers had an odds ratio of 11 (CI:1.4-85; p=0.0012) and a 52% (CI: 28-80%) chance of developing the disease by age 70.10.1136/jmedgenet-2016-103839

OMIM607585
DescATAXIA-TELANGIECTASIA VARIANT
Variant0005
Relatedalso
Neighborrs28942102
Distance6


ClinVar
Risk rs28904921(G;G)
Alt rs28904921(G;G)
Reference rs28904921(T;T)
Significance Other
Disease Ataxia-telangiectasia variant T-cell prolymphocytic leukemia Breast cancer Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided
Variation info
Gene C11orf65 ATM
CLNDBN Ataxia-telangiectasia variant T-cell prolymphocytic leukemia Breast cancer, susceptibility to Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not provided
Reversed 0
HGVS NC_000011.9:g.108199929T>G
CLNSRC Inc. OMIM Allelic Variant
CLNACC RCV000003159.4, RCV000003160.6, RCV000003161.4, RCV000115244.6, RCV000168223.5, RCV000212060.2,