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rs4986761

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 1.5 very slightly increased (1.5x or less) breast cancer risk
(C;T) 1 very slightly increased risk (1.05) for breast cancer
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome11
Position108254034
GeneATM
is asnp
is mentioned by
dbSNPrs4986761
ebirs4986761
HLIrs4986761
Exacrs4986761
Varsomers4986761
Maprs4986761
PheGenIrs4986761
hapmaprs4986761
1000 genomesrs4986761
hgdprs4986761
ensemblrs4986761
gopubmedrs4986761
geneviewrs4986761
scholarrs4986761
googlers4986761
pharmgkbrs4986761
gwascentralrs4986761
openSNPrs4986761
23andMers4986761
23andMe allrs4986761
SNP Nexus

SNPshotrs4986761
SNPdbers4986761
MSV3drs4986761
GWAS Ctlgrs4986761
GMAF0.005051
Max Magnitude1.5
? (C;C) (C;T) (T;T) 28

This SNP, also known as S707P, 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 18701470OA-icon.png] Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.


GET Evidence
ATM-S707P
aa_change Ser707Pro
aa_change_short S707P
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.00818148
summary Probably not pathogenic, several papers conclude it is not associated with breast cancer.



ClinVar
Risk rs4986761(C;C)
Alt rs4986761(C;C)
Reference rs4986761(T;T)
Significance Other
Disease not specified Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene ATM
CLNDBN not specified Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000011.9:g.108124761T>C
CLNSRC Inc.
CLNACC RCV000116422.5, RCV000119131.3, RCV000128903.5,