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rs1800057

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;G) 1.05 very slightly increased risk (1.05) for breast cancer
(G;G) 1.5 very slightly increased breast cancer risk
ReferenceGRCh38 38.1/141
Chromosome11
Position108272729
GeneATM
is asnp
is mentioned by
dbSNPrs1800057
ebirs1800057
HLIrs1800057
Exacrs1800057
Varsomers1800057
Maprs1800057
PheGenIrs1800057
hapmaprs1800057
1000 genomesrs1800057
hgdprs1800057
ensemblrs1800057
gopubmedrs1800057
geneviewrs1800057
scholarrs1800057
googlers1800057
pharmgkbrs1800057
gwascentralrs1800057
openSNPrs1800057
23andMers1800057
23andMe allrs1800057
SNP Nexus

SNPshotrs1800057
SNPdbers1800057
MSV3drs1800057
GWAS Ctlgrs1800057
GMAF0.01515
Max Magnitude1.5
? (C;C) (C;G) (G;G) 28

This SNP, also known as P1054R, 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 (G).

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]

Neighborrs3092857
Distance157
[PMID 22438227OA-icon.png] Functional Variations in the ATM Gene and Susceptibility to Differentiated Thyroid Carcinoma

[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.

[PMID 19348699OA-icon.png] Variants in the ATM gene and breast cancer susceptibility.

[PMID 19638463] Sequence variant discovery in DNA repair genes from radiosensitive and radiotolerant prostate brachytherapy patients.


GET Evidence
ATM-P1054R
aa_change Pro1054Arg
aa_change_short P1054R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0159881
summary



[PMID 23936089OA-icon.png] Polymorphisms in DNA-Repair Genes in a Cohort of Prostate Cancer Patients from Different Areas in Spain: Heterogeneity between Populations as a Confounding Factor in Association Studies


ClinVar
Risk rs1800057(G;G)
Alt rs1800057(G;G)
Reference rs1800057(C;C)
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.108143456C>G
CLNSRC Inc.
CLNACC RCV000119124.2, RCV000120131.2, RCV000130988.3,



[PMID 26974709] Polymorphisms in double strand break repair related genes influence radiosensitivity phenotype in lymphocytes from healthy individuals.