chr17:37879658:G>A Detail (hg19) (ERBB2)

Information

Genome

Assembly Position
hg19 chr17:37,879,658-37,879,658
hg38 chr17:39,723,405-39,723,405 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004448.3:c.2033G>A NP_004439.2:p.Arg678Gln
NM_001289937.1:c.2033G>A NP_001276866.1:p.Arg678Gln
NM_001005862.2:c.1943G>A NP_001005862.1:p.Arg648Gln
Summary

MGeND

Clinical significance not provided
Variant entry 31
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
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 COSM5055424 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided 2018/05/15 stomach neoplasms somatic MGS000017
(TMGS000034) 		Kohei Miyazono Tokyo University
not provided body of stomach not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided caecum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectosigmoid junction not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided extrahepatic bile duct not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided ill-defined sites within the digestive system not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided fundus of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided body of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided pyloric antrum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided caecum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided appendix not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided ill-defined sites within the digestive system not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
not provided 2016-03-10 no assertion provided Breast neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
breast cancer Lapatinib,Neratinib D Predictive Supports Sensitivity/Response Somatic 5 23220880 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
MCF10A cells transduced with ERBB2 harboring an R678Q mutation were sensitive to lapatinib and the i... CIViC Evidence Detail
NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln) AND Breast neoplasm ClinVar Detail
NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln) AND Prostate adenocarcinoma ClinVar Detail
NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln) AND Neoplasm of the large intestine ClinVar Detail
NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln) AND Gastric adenocarcinoma ClinVar 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
rs1057519862 dbSNP
Genome
hg19
Position
chr17:37,879,658-37,879,658
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
R678Q
Transcript 1 (CIViC Variant)
ENST00000269571.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/42
Summary (CIViC Variant)
ERBB2 R678Q was shown to have NO functional effect in tissue culture assay (Bose et al 2013). This conclusion was confirmed by a second, independent lab.
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