chr12:56088138:G>A Detail (hg38) (ERBB3)

Information

Genome

Assembly Position
hg19 chr12:56,481,922-56,481,922 View the variant detail on this assembly version.
hg38 chr12:56,088,138-56,088,138

HGVS

Type Transcript Protein
RefSeq NM_001982.3:c.850G>A NP_001973.2:p.Gly284Arg
Ensemble ENST00000415288.6:c.673G>A ENST00000415288.6:p.Gly225Arg
ENST00000267101.8:c.850G>A ENST00000267101.8:p.Gly284Arg
Summary

MGeND

Clinical significance
Variant entry
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 190151 OMIM
HGNC 3431 HGNC
Ensembl ENSG00000065361 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM48360 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2014-12-26 no assertion criteria provided Colonic neoplasm somatic Detail
Likely pathogenic 2014-12-26 no assertion criteria provided Neoplasm of stomach somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
transitional cell carcinoma Afatinib B Predictive Supports Sensitivity/Response Somatic 3 27044931 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In this phase II trial, patients with metastatic platinum-refractory urothelial carcinoma (UC) recei... CIViC Evidence Detail
NM_001982.4(ERBB3):c.850G>A (p.Gly284Arg) AND Colonic neoplasm ClinVar Detail
NM_001982.4(ERBB3):c.850G>A (p.Gly284Arg) AND Neoplasm of stomach 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
rs1057519803 dbSNP
Genome
hg38
Position
chr12:56,088,138-56,088,138
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
G284R
Transcript 1 (CIViC Variant)
ENST00000267101.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/703
Genome browser