chr12:56478854:G>A Detail (hg19) (ERBB3)

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

Genome

Assembly	Position
hg19	chr12:56,478,854-56,478,854
hg38	chr12:56,085,070-56,085,070 View the variant detail on this assembly version.

HGVS

ERBB3

Type	Transcript	Protein
RefSeq	NM_001005915.1:c.310G>A	NP_001005915.1:p.Val104Met
	NM_001982.3:c.310G>A	NP_001973.2:p.Val104Met
Ensemble	ENST00000415288.6:c.133G>A	ENST00000415288.6:p.Val45Met
	ENST00000683018.1:c.133G>A	ENST00000683018.1:p.Val45Met
	ENST00000411731.6:c.310G>A	ENST00000411731.6:p.Val104Met
	ENST00000267101.8:c.310G>A	ENST00000267101.8:p.Val104Met
	ENST00000683059.1:c.133G>A	ENST00000683059.1:p.Val45Met
	ENST00000683164.1:c.133G>A	ENST00000683164.1:p.Val45Met

Summary

MGeND

Clinical significance	not provided
Variant entry	20
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic 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	COSM1152549	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		Tumors of unknown primary site	somatic	MGS000018 (TMGS000110)	Hitoshi Nakagama	National Cancer Center Japan	30742731
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		descending 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		bronchus or lung, unspecified	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		pyloric antrum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		duodenum	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		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

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	uterine carcinosarcoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of uterine cervix	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Breast neoplasm	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	Malignant neoplasm of body of uterus	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gallbladder carcinoma	somatic	Detail
Pathogenic		no assertion criteria provided	Malignant tumor of urinary bladder	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.310G>A (p.Val104Met) AND Gastric adenocarcinoma	ClinVar	Detail
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) AND Uterine carcinosarcoma	ClinVar	Detail
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) AND Neoplasm of uterine cervix	ClinVar	Detail
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) AND Breast neoplasm	ClinVar	Detail
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) AND Neoplasm of the large intestine	ClinVar	Detail
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) AND Malignant neoplasm of body of uterus	ClinVar	Detail
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) AND Gallbladder carcinoma	ClinVar	Detail
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) AND Malignant tumor of urinary bladder	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: rs1057519893 dbSNP
Genome: hg19
Position: chr12:56,478,854-56,478,854
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Variant (CIViC) (CIViC Variant): V104M
Transcript 1 (CIViC Variant): ENST00000267101.3
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/701

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