chr17:37880991:A>TGGCTGG Detail (hg19) (ERBB2)

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

Genome

Assembly	Position
hg19	chr17:37,880,991-37,880,991
hg38	chr17:39,724,738-39,724,738 View the variant detail on this assembly version.

HGVS

ERBB2

Type	Transcript	Protein
RefSeq	NM_001005862.2:c.2230delinsTGGCTGG	NP_001005862.1:p.Met744delinsTrpLeuVal
	NM_001289936.1:c.2230delinsTGGCTGG	NP_001276865.1:p.Met744delinsTrpLeuVal
	NM_004448.3:c.2320delinsTGGCTGG	NP_004439.2:p.Met774delinsTrpLeuVal
	NM_001289937.1:c.2320delinsTGGCTGG	NP_001276866.1:p.Met774delinsTrpLeuVal
Ensemble	ENST00000584601.5:c.2230delinsTGGCTGG	ENST00000584601.5:p.Met744delinsTrpLeuVal
	ENST00000269571.10:c.2320delinsTGGCTGG	ENST00000269571.10:p.Met774delinsTrpLeuVal
	ENST00000584450.5:c.2320delinsTGGCTGG	ENST00000584450.5:p.Met774delinsTrpLeuVal
	ENST00000445658.6:c.1492delinsTGGCTGG	ENST00000445658.6:p.Met498delinsTrpLeuVal
	ENST00000406381.6:c.2230delinsTGGCTGG	ENST00000406381.6:p.Met744delinsTrpLeuVal
	ENST00000541774.5:c.2275delinsTGGCTGG	ENST00000541774.5:p.Met759delinsTrpLeuVal

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

ERBB2

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
lung non-small cell carcinoma	Dacomitinib	C	Predictive	Supports	Sensitivity/Response	Somatic	3	25899785	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
Phase 2 trial of ERBB-inhibitor dacomitinib in stage IIIB/IV lung cancers with HER2 mutations or amp...	CIViC Evidence	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: -
Genome: hg19
Position: chr17:37,880,991-37,880,991
Variant Type: snv
Reference Allele: A
Alternative Allele: TGGCTGG
Variant (CIViC) (CIViC Variant): M774DELINSWLV
Transcript 1 (CIViC Variant): ENST00000269571.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/818

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