{{Rsnum
|rsid=1136201
|Gene=ERBB2
|Chromosome=17
|position=39723335
|Orientation=plus
|GMAF=0.1556
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ERBB2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 53.1 | 40.7 | 6.2
| HCB | 62.2 | 33.3 | 4.4
| JPT | 76.4 | 22.7 | 0.9
| YRI | 100.0 | 0.0 | 0.0
| ASW | 89.1 | 10.9 | 0.0
| CHB | 62.2 | 33.3 | 4.4
| CHD | 72.4 | 26.7 | 1.0
| GIH | 74.7 | 23.2 | 2.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 71.9 | 28.1 | 0.0
| MKK | 97.4 | 2.6 | 0.0
| TSI | 77.3 | 20.6 | 2.1
| HapMapRevision=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

{{PharmGKB
|RSID=rs1136201
|Name_s=ERBB2: rs1136201 A>C, I665V (formerly rs1801200)
|Gene_s=ERBB2
|Feature=
|Evidence=PubMed ID:18837888
|Annotation=Risk or phenotype-associated allele: AC genotype (ERBB2 665 Ile/Val). Phenotype: Increased prevalence of breast cancer in individuals with the combined genotypes of ESR1 rs1801132 CC and ERBB2 665 Ile/Val (rs1136201 A/C). Study size: 100 breast cancer patients (98 females) and 90 controls (84 females). Study population/ethnicity: Sudanese patients diagnosed between June 2004 and July 2005 in Khartoum. Significance metric(s): adjusted OR = 4.9; p = 0.05. Type of association: GN; CO.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA165291441
}}

{{PharmGKB
|RSID=rs1136201
|Name_s=ERBB2:Ile655Val
|Gene_s=ERBB2
|Feature=
|Evidence=PubMed ID:10699071; PubMed ID:12846420; PubMed ID:15970791; PubMed ID:15987431; PubMed ID:16416013; PubMed ID:17687647; PubMed ID:18062925; PubMed ID:18721072
|Annotation=Individuals carrying the Ile/Val or Val/Val genotype have increased risk for breast cancer.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA162263558
}}

{{PharmGKB
|RSID=rs1136201
|Name_s=ERBB2:Ile655Val
|Gene_s=ERBB2
|Feature=
|Evidence=PubMed ID:17693647
|Annotation=This variant is associated with cardiotoxicity in breast cancer patients treated with trastuzumab. The presence of Val allele may be a risk factor for cardiac toxicity. The Val form is also more sensitive to trastuzamab in vitro.
|Drugs=trastuzumab
|Drug Classes=
|Diseases=Breast Neoplasms; Drug Toxicity
|Curation Level=Curated
|PharmGKB Accession ID=PA162263557
}}

{{PharmGKB
|RSID=rs1136201
|Name_s=ERBB2: I665V (formerly rs1801200)
|Gene_s=ERBB2
|Feature=
|Evidence=PubMed ID:15743501
|Annotation=Risk or phenotype-associated allele: none. Phenotype: Breast cancer risk. Study size: 2192 (1438 incident and 754 prevalent) cases and 2257 controls. Study population/ethnicity: British female breast cancer patients < 55 years of age (prevalent cases) recruited between 1 January 1991 and 30 June 1996, and < 70 years of age diagnosed from 1996 onwards (incident cases), and ethinic-matched European controls. Significance metric(s): p = 0.69 (non-significant). Type of association: GN; CO.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA165290959
}}

{{PharmGKB
|RSID=rs1136201
|Name_s=ERBB2:1873A>G (I625V), 1963A>G (I655V)
|Gene_s=ERBB2
|Feature=
|Evidence=PubMed ID:19860576
|Annotation=Risk or phenotype-associated allele: G (Val) allele. Phenotype: Association with risk of thyroid cancer. Study size: 106 cases and 302 controls. Study population/ethnicity: Thyroid cancer patients and healthy individuals. Significance metric(s): OR = 1.88; p = 0.007. Type of association: CO; GN.
|Drugs=
|Drug Classes=
|Diseases=Thyroid Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA165291587
}}

{{PharmGKB
|RSID=rs1136201
|Name_s=ERBB2: rs1136201 A>C, I665V (formerly rs1801200)
|Gene_s=ERBB2
|Feature=
|Evidence=PubMed ID:18837888
|Annotation=Risk or phenotype-associated allele: AC genotype (ERBB2 665 Ile/Val). Phenotype: Borderline significant trend for increased AC (655 Ile/Val) heterozygotes than AA (655 Ile/Ile) homozygotes among breast cancer patients. Study size: 100 breast cancer patients (98 females) and 90 controls (84 females). Study population/ethnicity: Sudanese patients diagnosed between June 2004 and July 2005 in Khartoum. Significance metric(s): OR = 2.95; p = 0.06. Type of association: GN; CO.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA165291439
}}

{{omim
|id=164870
|rsnum=1136201
|variant=0001
}}

{{PMID Auto
|PMID=21474413
|Title=Lack of replication for the association between HER2 I655V polymorphism and breast cancer risk: A systematic review and meta-analysis
}}

{{ClinVar
|rsid=1136201
|Reversed=0
|FwdREF=A
|FwdALT=G,T
|REF=A
|ALT=G,T
|RSPOS=37879588
|CHROM=17
|GMAF=0.1552
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x05016800000015051f110100
|GENEINFO=ERBB2:2064
|GENE_NAME=ERBB2
|GENE_ID=2064
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.37879588A>G
|CLNORIGIN=1
|CLNSIG=2
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.8444; 0.1556; .
|CLNACC=RCV000014887.1
|CLNDBN=ERBB2 POLYMORPHISM
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=164870.0001
|COMMON=1
|Disease=ERBB2 POLYMORPHISM
}}

{{PMID Auto
|PMID=17132159
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=17267408
|Title=Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
|OA=1
}}

{{PMID Auto
|PMID=17598910
|Title=Interactions among genes in the ErbB-Neuregulin signalling network are associated with increased susceptibility to schizophrenia.
|OA=1
}}

{{PMID Auto
|PMID=19055823
|Title=The genetic polymorphisms of HER-2 and the risk of lung cancer in a Korean population.
|OA=1
}}

{{PMID Auto
|PMID=19240718
|Title=Tagging single-nucleotide polymorphisms in candidate oncogenes and susceptibility to ovarian cancer.
|OA=1
}}

{{PMID Auto
|PMID=19336545
|Title=Heritable variation of ERBB2 and breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19438491
|Title=The effects of obesity and HER-2 polymorphisms as risk factors for endometrial cancer in Korean women.
}}

{{PMID Auto
|PMID=19822020
|Title=Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study.
|OA=1
}}

{{PMID Auto
|PMID=20922573
|Title=Functional polymorphisms associated with disease-free survival in resected carcinoma of the esophagus.
|OA=1
}}

{{PMID Auto
|PMID=21649724
|Title=Variation in human genetic polymorphisms, their association with Helicobacter pylori acquisition and gastric cancer in a multi-ethnic country.
}}

{{GET Evidence
|gene=ERBB2
|aa_change=Ile655Val
|aa_change_short=I655V
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1136201
|overall_frequency_n=1802
|overall_frequency_d=10758
|overall_frequency=0.167503
|n_genomes=7
|n_genomes_annotated=0
|n_haplomes=7
|n_articles=1
|n_articles_annotated=1
|in_pharmgkb=Y
|pph2_score=0.18
|nblosum100=-4
|autoscore=1
|webscore=N
|summary_short=Associated with cardiac toxicity with trastuzumab.
}}

{{on chip | 23andMe v3}}