chr17:37881000:G>T Detail (hg19) (ERBB2)

Information

Genome

Assembly Position
hg19 chr17:37,881,000-37,881,000
hg38 chr17:39,724,747-39,724,747 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004448.3:c.2329G>T NP_004439.2:p.Val777Leu
NM_001289937.1:c.2329G>T NP_001276866.1:p.Val777Leu
NM_001005862.2:c.2239G>T NP_001005862.1:p.Val747Leu
Summary

MGeND

Clinical significance not provided
Variant entry 11
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
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 COSM5120702 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided malignant neoplasm of rectosigmoid junction not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided Skin cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided sigmoid 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 malignant neoplasm of rectum 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 malignant neoplasm of rectum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2010-08-17 criteria provided, single submitter not specified somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
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
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
colon cancer Trastuzumab,Neratinib,Lapatinib D Predictive Supports Sensitivity/Response Somatic 4 26243863 Detail
breast cancer Neratinib D Predictive Supports Sensitivity/Response Somatic 5 23220880 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
In MCF10A cell lines, the V777L mutation was shown to be sensitive to neratinib. CIViC Evidence Detail
NM_004448.4(ERBB2):c.2329G>T (p.Val777Leu) AND not specified ClinVar Detail
NM_004448.4(ERBB2):c.2329G>T (p.Val777Leu) AND Gastric adenocarcinoma ClinVar Detail
NM_004448.4(ERBB2):c.2329G>T (p.Val777Leu) AND Breast neoplasm ClinVar Detail
NM_004448.4(ERBB2):c.2329G>T (p.Val777Leu) AND Neoplasm of the large intestine 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
rs121913471 dbSNP
Genome
hg19
Position
chr17:37,881,000-37,881,000
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
V777L
Transcript 1 (CIViC Variant)
ENST00000269571.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/44
Summary (CIViC Variant)
ERBB2 V777L was one of the first ERBB2 variants to be functionally classified (Bose et al. 2013). This mutation was shown to be an activating mutation in an in vitro assay. In the same paper, this mutation (along with other ERBB2 activating mutations) in MCF10A breast cancer cell lines have been shown to be sensitive to the kinase inhibitor neratinib. More recent evidence may show that HER2 acitivating mutations confer sensitivity to a host of tyrosine kinase inhibitors, which is the topic of current clinical trials and research.
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