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rs1800056

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 1.5 very slightly increased (1.5x or less) breast cancer risk
(C;T) 1.05 very slightly increased risk (1.05) for breast cancer
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome11
Position108267276
GeneATM
is asnp
is mentioned by
dbSNPrs1800056
ebirs1800056
HLIrs1800056
Exacrs1800056
Varsomers1800056
Maprs1800056
PheGenIrs1800056
hapmaprs1800056
1000 genomesrs1800056
hgdprs1800056
ensemblrs1800056
gopubmedrs1800056
geneviewrs1800056
scholarrs1800056
googlers1800056
pharmgkbrs1800056
gwascentralrs1800056
openSNPrs1800056
23andMers1800056
23andMe allrs1800056
SNP Nexus

SNPshotrs1800056
SNPdbers1800056
MSV3drs1800056
GWAS Ctlgrs1800056
GMAF0.006887
Max Magnitude1.5
? (C;C) (C;T) (T;T) 28

This SNP, also known as F858L, a variant in the ATM gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]

For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.

For this particular SNP, the risk (minor) allele is (C).

Another large meta-analysis published in 2011, comprising 26,000+ breast cancer cases and almost 30,000 controls from 23 studies in the Breast Cancer Association Consortium, found average odds ratios of 1.05 for heterozygotes and 1.51 for homozygotes of each of 5 ATM gene SNPs, of which this is one.[PMID 20826828OA-icon.png]

[PMID 17132159OA-icon.png] Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study.

[PMID 17623063OA-icon.png] Linkage disequilibrium pattern of the ATM gene in breast cancer patients and controls; association of SNPs and haplotypes to radio-sensitivity and post-lumpectomy local recurrence.

[PMID 18701470OA-icon.png] Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.


GET Evidence
ATM-F858L
aa_change Phe858Leu
aa_change_short F858L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0091095
summary colorectal cancer



ClinVar
Risk rs1800056(C;C)
Alt rs1800056(C;C)
Reference rs1800056(T;T)
Significance Non-pathogenic
Disease Ataxia-telangiectasia syndrome not specified Hereditary cancer-predisposing syndrome
Variation info
Gene ATM
CLNDBN Ataxia-telangiectasia syndrome not specified Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000011.9:g.108138003T>C
CLNSRC Inc.
CLNACC RCV000119188.3, RCV000120127.2, RCV000131019.6,