chr17:37880220:T>C Detail (hg19) (ERBB2)

Information

Genome

Assembly Position
hg19 chr17:37,880,220-37,880,220
hg38 chr17:39,723,967-39,723,967 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004448.3:c.2264T>C NP_004439.2:p.Leu755Ser
NM_001289937.1:c.2264T>C NP_001276866.1:p.Leu755Ser
NM_001005862.2:c.2174T>C NP_001005862.1:p.Leu725Ser
Summary

MGeND

Clinical significance not provided
Variant entry 21
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
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 COSM4995736 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided fundus of stomach not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided pyloric antrum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided ill-defined sites within the digestive system not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided other somatic MGS000039
(TMGS000092) 		Hitoshi Nakagama National Cancer Center Japan 29659903
not provided body of stomach not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon 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 pyloric antrum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided transverse 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
not provided bronchus or lung, unspecified 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 Malignant neoplasm of body of uterus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Papillary renal cell carcinoma, sporadic 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 melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma 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 Lapatinib D Predictive Supports Resistance Somatic 5 23220880 Detail
breast cancer Neratinib D Predictive Supports Sensitivity/Response Somatic 5 23220880 Detail
colorectal adenocarcinoma Leucovorin,Fluorouracil,Trastuzumab C Predictive Does Not Support Sensitivity/Response Somatic 3 27626067 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
The L755S mutation was shown to confer resistance to lapatinib in MCF10A cell lines retrovirally tra... CIViC Evidence Detail
The L755S mutation showed mild response to neratinib in MCF10A cell lines retrovirally transduced wi... CIViC Evidence Detail
Patient was a 35 year old male who was treated with pseudoadjuvant FOLFOX chemotherapy. Patient rela... CIViC Evidence Detail
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser) AND Papillary renal cell carcinoma, sporadic ClinVar Detail
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser) AND Neoplasm of the large intestine ClinVar Detail
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser) AND Malignant melanoma of skin ClinVar Detail
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser) AND Breast neoplasm ClinVar Detail
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser) AND Gastric adenocarcinoma 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
rs121913470 dbSNP
Genome
hg19
Position
chr17:37,880,220-37,880,220
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
L755S
Transcript 1 (CIViC Variant)
ENST00000269571.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/39
Summary (CIViC Variant)
ERBB2 L755S was one of the first ERBB2 variants to be functionally classified (Bose et al. 2013). This mutation was not shown to be an activating mutation, unlike many of the other variants queried. This mutation was also shown to confer resistance to the tyrosine kinase inhibitor lapatinib in MCF10A cell lines.
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