chr17:37879585:A>G Detail (hg19) (ERBB2)

Information

Genome

Assembly Position
hg19 chr17:37,879,585-37,879,585
hg38 chr17:39,723,332-39,723,332 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001289937.1:c.1960A>G NP_001276866.1:p.Ile654Val
NM_001005862.2:c.1870A>G NP_001005862.1:p.Ile624Val
NM_001289936.1:c.1870A>G NP_001276865.1:p.Ile624Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 164870 OMIM
HGNC 3430 HGNC
Ensembl ENSG00000141736 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6854579 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 1993-02-01 no assertion criteria provided ERBB2 POLYMORPHISM germline Detail
not provided 2013-09-19 no assertion provided not specified germline Detail
Benign Likely benign 2024-01-17 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.019 breast carcinoma A case (n=250)-control (n=500) study was undertaken to investigate the role of S... BeFree 18058229 Detail
0.096 Malignant neoplasm of breast A case (n=250)-control (n=500) study was undertaken to investigate the role of S... BeFree 18058229 Detail
0.016 breast carcinoma A case (n=250)-control (n=500) study was undertaken to investigate the role of S... BeFree 18058229 Detail
0.099 Malignant neoplasm of breast A case (n=250)-control (n=500) study was undertaken to investigate the role of S... BeFree 18058229 Detail
0.080 breast carcinoma A case (n=250)-control (n=500) study was undertaken to investigate the role of S... BeFree 18058229 Detail
0.102 Malignant neoplasm of breast A case (n=250)-control (n=500) study was undertaken to investigate the role of S... BeFree 18058229 Detail
0.003 Breast Cancer, Familial The rare ERBB2 variant Ile654Val is associated with an increased familial breast... BeFree 15550452 Detail
0.022 breast carcinoma A case (n=250)-control (n=500) study was undertaken to investigate the role of S... BeFree 18058229 Detail
0.240 Malignant neoplasm of breast A case-control study of the HER2 Ile655Val polymorphism and risk of breast cance... BeFree 18062925 Detail
0.240 Malignant neoplasm of breast HER-2 [Ile655Val] polymorphism in association with breast cancer risk: a populat... BeFree 16416013 Detail
0.080 breast carcinoma Studies on the association between the Ile to Val polymorphism at codon 655 of t... BeFree 18090908 Detail
0.069 stomach carcinoma Analysis of the polymorphisms EGFR-r521K and ERBB2-I655V in Mexican patients wit... BeFree 23844533 Detail
0.070 Malignant neoplasm of stomach Analysis of the polymorphisms EGFR-r521K and ERBB2-I655V in Mexican patients wit... BeFree 23844533 Detail
0.047 breast carcinoma A polymorphism at codon 655 (ATC/isoleucine to GTC/valine [Ile655Val], rs1801200... BeFree 17687647 Detail
0.036 breast carcinoma HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. BeFree 23086302 Detail
0.080 breast carcinoma Association between the HER2 Ile655Val polymorphism and response to trastuzumab ... BeFree 24608202 Detail
0.104 Malignant neoplasm of breast HER1 R497K and HER2 I655V polymorphisms are linked to development of breast canc... BeFree 23594562 Detail
0.080 breast carcinoma Lack of replication for the association between HER2 I655V polymorphism and brea... BeFree 21474413 Detail
0.080 breast carcinoma The HER2 I655V polymorphism and breast cancer risk in Ashkenazim. BeFree 14569185 Detail
0.240 Malignant neoplasm of breast The erbB2/HER2/neu receptor polymorphism Ile655Val and breast cancer risk. BeFree 15970791 Detail
0.080 breast carcinoma Increased risk of breast cancer associated with the I655V allele was also observ... BeFree 14569185 Detail
0.240 Malignant neoplasm of breast HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. BeFree 23086302 Detail
0.128 Malignant neoplasm of breast A polymorphism at codon 655 (ATC/isoleucine to GTC/valine [Ile655Val], rs1801200... BeFree 17687647 Detail
0.240 Malignant neoplasm of breast HER-2/neu Ile655Val polymorphism and the risk of breast cancer. BeFree 18837888 Detail
0.240 Malignant neoplasm of breast Association between the HER2 Ile655Val polymorphism and response to trastuzumab ... BeFree 24608202 Detail
0.240 Malignant neoplasm of breast One of these, Ile655Val, introduces a structural change in the transmembrane reg... BeFree 17452776 Detail
0.240 Malignant neoplasm of breast HER2 Ile655Val polymorphism contributes to breast cancer risk: evidence from 27 ... BeFree 20401632 Detail
0.240 Malignant neoplasm of breast A case (n=250)-control (n=500) study was undertaken to investigate the role of S... BeFree 18058229 Detail
0.080 breast carcinoma The HER2 I655V polymorphism and risk of breast cancer in women &lt; age 40 years... BeFree 14578152 Detail
0.080 breast carcinoma A case-control study of the HER2 Ile655Val polymorphism and risk of breast cance... BeFree 18062925 Detail
0.080 breast carcinoma The erbB2/HER2/neu receptor polymorphism Ile655Val and breast cancer risk. BeFree 15970791 Detail
0.080 breast carcinoma HER-2/neu Ile655Val polymorphism and the risk of breast cancer. BeFree 18837888 Detail
0.080 breast carcinoma Recent studies indicated an association between the Ile to Val polymorphism at c... BeFree 11857355 Detail
0.360 Malignant neoplasm of breast Increased risk of breast cancer associated with the I655V allele was also observ... BeFree 14569185 Detail
0.080 breast carcinoma HER2 Ile655Val polymorphism contributes to breast cancer risk: evidence from 27 ... BeFree 20401632 Detail
0.005 Precancerous Conditions Analysis of the polymorphisms EGFR-r521K and ERBB2-I655V in Mexican patients wit... BeFree 23844533 Detail
0.240 Malignant neoplasm of breast Lack of replication for the association between HER2 I655V polymorphism and brea... BeFree 21474413 Detail
0.080 breast carcinoma HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. BeFree 23086302 Detail
0.080 breast carcinoma Ile to Val polymorphism at codon 655 of HER-2 gene and breast cancer risk in Ira... BeFree 15374636 Detail
0.022 stomach carcinoma Our data suggest that the EGFR-R521K and ERBB2-I655V polymorphisms are not suita... BeFree 23844533 Detail
0.080 breast carcinoma One of these, Ile655Val, introduces a structural change in the transmembrane reg... BeFree 17452776 Detail
0.051 Malignant neoplasm of breast HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. BeFree 23086302 Detail
0.004 Precancerous Conditions Analysis of the polymorphisms EGFR-r521K and ERBB2-I655V in Mexican patients wit... BeFree 23844533 Detail
0.032 Invasive breast carcinoma A case-control study of the HER2 Ile655Val polymorphism in relation to risk of i... BeFree 15987431 Detail
0.240 Malignant neoplasm of breast Ile to Val polymorphism at codon 655 of HER-2 gene and breast cancer risk in Ira... BeFree 15374636 Detail
0.240 Malignant neoplasm of breast The HER2 I655V polymorphism and breast cancer risk in Ashkenazim. BeFree 14569185 Detail
0.030 Malignant neoplasm of stomach Our data suggest that the EGFR-R521K and ERBB2-I655V polymorphisms are not suita... BeFree 23844533 Detail
0.240 Malignant neoplasm of breast Studies on the association between the Ile to Val polymorphism at codon 655 of t... BeFree 18090908 Detail
0.080 breast carcinoma HER-2 [Ile655Val] polymorphism in association with breast cancer risk: a populat... BeFree 16416013 Detail
0.080 breast carcinoma HER1 R497K and HER2 I655V polymorphisms are linked to development of breast canc... BeFree 23594562 Detail
0.240 Malignant neoplasm of breast HER1 R497K and HER2 I655V polymorphisms are linked to development of breast canc... BeFree 23594562 Detail
0.080 breast carcinoma HER1 R497K and HER2 I655V polymorphisms are linked to development of breast canc... BeFree 23594562 Detail
0.169 Carcinogenesis Ile/Ile homozygosity at codon 655 of HER2 in schwannoma may imply some role in t... BeFree 22315174 Detail
0.240 Malignant neoplasm of breast Recent studies indicated an association between the Ile to Val polymorphism at c... BeFree 11857355 Detail
0.240 Malignant neoplasm of breast The HER2 I655V polymorphism and risk of breast cancer in women &lt; age 40 years... BeFree 14578152 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004448.4(ERBB2):c.1960A>G (p.Ile654Val) AND ERBB2 POLYMORPHISM ClinVar Detail
NM_004448.4(ERBB2):c.1960A>G (p.Ile654Val) AND not specified ClinVar Detail
NM_004448.4(ERBB2):c.1960A>G (p.Ile654Val) AND not provided ClinVar Detail
A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol... DisGeNET Detail
A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol... DisGeNET Detail
A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol... DisGeNET Detail
A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol... DisGeNET Detail
A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol... DisGeNET Detail
A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol... DisGeNET Detail
The rare ERBB2 variant Ile654Val is associated with an increased familial breast cancer risk. DisGeNET Detail
A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol... DisGeNET Detail
A case-control study of the HER2 Ile655Val polymorphism and risk of breast cancer in Taiwan. DisGeNET Detail
HER-2 [Ile655Val] polymorphism in association with breast cancer risk: a population-based case-contr... DisGeNET Detail
Studies on the association between the Ile to Val polymorphism at codon 655 of the human epithelial ... DisGeNET Detail
Analysis of the polymorphisms EGFR-r521K and ERBB2-I655V in Mexican patients with gastric cancer and... DisGeNET Detail
Analysis of the polymorphisms EGFR-r521K and ERBB2-I655V in Mexican patients with gastric cancer and... DisGeNET Detail
A polymorphism at codon 655 (ATC/isoleucine to GTC/valine [Ile655Val], rs1801200) in the transmembra... DisGeNET Detail
HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. DisGeNET Detail
Association between the HER2 Ile655Val polymorphism and response to trastuzumab in women with operab... DisGeNET Detail
HER1 R497K and HER2 I655V polymorphisms are linked to development of breast cancer. DisGeNET Detail
Lack of replication for the association between HER2 I655V polymorphism and breast cancer risk: a sy... DisGeNET Detail
The HER2 I655V polymorphism and breast cancer risk in Ashkenazim. DisGeNET Detail
The erbB2/HER2/neu receptor polymorphism Ile655Val and breast cancer risk. DisGeNET Detail
Increased risk of breast cancer associated with the I655V allele was also observed among BRCA1/2 mut... DisGeNET Detail
HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. DisGeNET Detail
A polymorphism at codon 655 (ATC/isoleucine to GTC/valine [Ile655Val], rs1801200) in the transmembra... DisGeNET Detail
HER-2/neu Ile655Val polymorphism and the risk of breast cancer. DisGeNET Detail
Association between the HER2 Ile655Val polymorphism and response to trastuzumab in women with operab... DisGeNET Detail
One of these, Ile655Val, introduces a structural change in the transmembrane region of ERBB2 and has... DisGeNET Detail
HER2 Ile655Val polymorphism contributes to breast cancer risk: evidence from 27 case-control studies... DisGeNET Detail
A case (n=250)-control (n=500) study was undertaken to investigate the role of Single Nucleotide Pol... DisGeNET Detail
The HER2 I655V polymorphism and risk of breast cancer in women &lt; age 40 years. DisGeNET Detail
A case-control study of the HER2 Ile655Val polymorphism and risk of breast cancer in Taiwan. DisGeNET Detail
The erbB2/HER2/neu receptor polymorphism Ile655Val and breast cancer risk. DisGeNET Detail
HER-2/neu Ile655Val polymorphism and the risk of breast cancer. DisGeNET Detail
Recent studies indicated an association between the Ile to Val polymorphism at codon 655 of HER-2 an... DisGeNET Detail
Increased risk of breast cancer associated with the I655V allele was also observed among BRCA1/2 mut... DisGeNET Detail
HER2 Ile655Val polymorphism contributes to breast cancer risk: evidence from 27 case-control studies... DisGeNET Detail
Analysis of the polymorphisms EGFR-r521K and ERBB2-I655V in Mexican patients with gastric cancer and... DisGeNET Detail
Lack of replication for the association between HER2 I655V polymorphism and breast cancer risk: a sy... DisGeNET Detail
HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. DisGeNET Detail
Ile to Val polymorphism at codon 655 of HER-2 gene and breast cancer risk in Iranian women. DisGeNET Detail
Our data suggest that the EGFR-R521K and ERBB2-I655V polymorphisms are not suitable as markers for i... DisGeNET Detail
One of these, Ile655Val, introduces a structural change in the transmembrane region of ERBB2 and has... DisGeNET Detail
HER2 Ile655Val and PTEN IVS4 polymorphisms in patients with breast cancer. DisGeNET Detail
Analysis of the polymorphisms EGFR-r521K and ERBB2-I655V in Mexican patients with gastric cancer and... DisGeNET Detail
A case-control study of the HER2 Ile655Val polymorphism in relation to risk of invasive breast cance... DisGeNET Detail
Ile to Val polymorphism at codon 655 of HER-2 gene and breast cancer risk in Iranian women. DisGeNET Detail
The HER2 I655V polymorphism and breast cancer risk in Ashkenazim. DisGeNET Detail
Our data suggest that the EGFR-R521K and ERBB2-I655V polymorphisms are not suitable as markers for i... DisGeNET Detail
Studies on the association between the Ile to Val polymorphism at codon 655 of the human epithelial ... DisGeNET Detail
HER-2 [Ile655Val] polymorphism in association with breast cancer risk: a population-based case-contr... DisGeNET Detail
HER1 R497K and HER2 I655V polymorphisms are linked to development of breast cancer. DisGeNET Detail
HER1 R497K and HER2 I655V polymorphisms are linked to development of breast cancer. DisGeNET Detail
HER1 R497K and HER2 I655V polymorphisms are linked to development of breast cancer. DisGeNET Detail
Ile/Ile homozygosity at codon 655 of HER2 in schwannoma may imply some role in tumorigenesis of Ile6... DisGeNET Detail
Recent studies indicated an association between the Ile to Val polymorphism at codon 655 of HER-2 an... DisGeNET Detail
The HER2 I655V polymorphism and risk of breast cancer in women &lt; age 40 years. DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1801201 dbSNP
Genome
hg19
Position
chr17:37,879,585-37,879,585
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121328
Allele Counts in All Race (ExAC)
583
Heterozygous Counts in All Race (ExAC)
575
Homozygous Counts in All Race (ExAC)
4
Allele Frequency in All Race (ExAC)
0.004805156270605302
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