chr17:39725151:C>A Detail (hg38) (ERBB2)

Information

Genome

Assembly Position
hg19 chr17:37,881,404-37,881,404 View the variant detail on this assembly version.
hg38 chr17:39,725,151-39,725,151

HGVS

Type Transcript Protein
RefSeq NM_004448.3:c.2596C>A NP_004439.2:p.Leu866Met
NM_001289937.1:c.2596C>A NP_001276866.1:p.Leu866Met
NM_001005862.2:c.2506C>A NP_001005862.1:p.Leu836Met
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
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
colon cancer Trastuzumab,Lapatinib,Neratinib D Predictive Supports Sensitivity/Response Somatic 4 26243863 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Colon cancer patient derived xenografts with HER2 mutations are sensitive to HER2 targeted drugs and... 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
hg38
Position
chr17:39,725,151-39,725,151
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
L866M
Transcript 1 (CIViC Variant)
ENST00000269571.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/496
Summary (CIViC Variant)
This mutation was shown to be an activating mutation and conferred sensitivity to a combination of trastuzumab with neratinib or lapatinib in colorectal cancer patient-derived xenografts.
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