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

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

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

ERBB3

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
	ENST00000683018.1:c.673G>A	ENST00000683018.1:p.Gly225Arg
	ENST00000683059.1:c.673G>A	ENST00000683059.1:p.Gly225Arg
	ENST00000683164.1:c.673G>A	ENST00000683164.1:p.Gly225Arg

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

ERBB3

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

Descrption	Source	Links
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