rs1800056

plus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

108267276

Gene

ATM

is a	snp
is	mentioned by
dbSNP	rs1800056
dbSNP (classic)	rs1800056
ClinGen	rs1800056
ebi	rs1800056
HLI	rs1800056
Exac	rs1800056
Gnomad	rs1800056
Varsome	rs1800056
LitVar	rs1800056
Map	rs1800056
PheGenI	rs1800056
Biobank	rs1800056
1000 genomes	rs1800056
hgdp	rs1800056
ensembl	rs1800056
geneview	rs1800056
scholar	rs1800056
google	rs1800056
pharmgkb	rs1800056
gwascentral	rs1800056
openSNP	rs1800056
23andMe	rs1800056
SNPshot	rs1800056
SNPdbe	rs1800056
MSV3d	rs1800056
GWAS Ctlg	rs1800056

GMAF

0.006887

Max Magnitude

1.5

?

(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 20826828 ]

[PMID 17132159 ] 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 17623063 ] 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 18701470 ] Variants in the ATM gene associated with a reduced risk of contralateral breast 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 not provided
Variation	info
Gene	ATM
CLNDBN	Ataxia-telangiectasia syndrome not specified Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.108138003T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000119188.4, RCV000120127.3, RCV000131019.6, RCV000415872.1,