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rs1136201

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1136201(A;G)
Make rs1136201(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position39723335
GeneERBB2
is asnp
is mentioned by
dbSNPrs1136201
ebirs1136201
HLIrs1136201
Exacrs1136201
Varsomers1136201
Maprs1136201
PheGenIrs1136201
hapmaprs1136201
1000 genomesrs1136201
hgdprs1136201
ensemblrs1136201
gopubmedrs1136201
geneviewrs1136201
scholarrs1136201
googlers1136201
pharmgkbrs1136201
gwascentralrs1136201
openSNPrs1136201
23andMers1136201
23andMe allrs1136201
SNP Nexus

SNPshotrs1136201
SNPdbers1136201
MSV3drs1136201
GWAS Ctlgrs1136201
Merged fromRs1801200
GMAF0.1556
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs1136201 (Ile655Val) is a SNP within ERBB2/HER2 (Human epidermal growth factor receptor 2).

[PMID 18237248] (among 56 patients with breast cancer and 45 healthy women) Ile-Val and Val-Val genotypes exhibited highly significant serum HER-2 elevation compared to those homozygous for Ile-Ile

[PMID 17693647] among 61 patients with advanced breast cancers and treated by trastuzumab, all cases of cardiotoxicity occurred in the Ile-Val group and there was no cardiac toxicity in the Val-Val and Ile-Val patients, there was no link found between tumor response and survival w/ HER2 genotype







OMIM164870
Desc
Variant0001
Relatedalso


[PMID 21474413] Lack of replication for the association between HER2 I655V polymorphism and breast cancer risk: A systematic review and meta-analysis


ClinVar
Risk rs1136201(G,T;G,T)
Alt rs1136201(G,T;G,T)
Reference rs1136201(A;A)
Significance Non-pathogenic
Disease ERBB2 POLYMORPHISM not specified
Variation info
Gene ERBB2
CLNDBN ERBB2 POLYMORPHISM not specified
Reversed 0
HGVS NC_000017.10:g.37879588A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014887.2, RCV000120744.1,



[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 17267408OA-icon.png] Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.


[PMID 17598910OA-icon.png] Interactions among genes in the ErbB-Neuregulin signalling network are associated with increased susceptibility to schizophrenia.


[PMID 19055823OA-icon.png] The genetic polymorphisms of HER-2 and the risk of lung cancer in a Korean population.


[PMID 19240718OA-icon.png] Tagging single-nucleotide polymorphisms in candidate oncogenes and susceptibility to ovarian cancer.


[PMID 19336545OA-icon.png] Heritable variation of ERBB2 and breast cancer risk.


[PMID 19438491] The effects of obesity and HER-2 polymorphisms as risk factors for endometrial cancer in Korean women.


[PMID 19822020OA-icon.png] Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study.


[PMID 20922573OA-icon.png] Functional polymorphisms associated with disease-free survival in resected carcinoma of the esophagus.


[PMID 21649724] Variation in human genetic polymorphisms, their association with Helicobacter pylori acquisition and gastric cancer in a multi-ethnic country.


GET Evidence
ERBB2-I655V
aa_change Ile655Val
aa_change_short I655V
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.167503
summary Associated with cardiac toxicity with trastuzumab.



[PMID 26049584] Influence of the HER2 Ile655Val polymorphism on trastuzumab-induced cardiotoxicity in HER2-positive breast cancer patients: a meta-analysis


[PMID 27293060] Role of HER-2 Ile655Val Polymorphism as Universal Cancer Susceptibility Marker among Different Cancers.