chr17:37881012:>GGCTCCCCA Detail (hg19) (ERBB2)

Information

Genome

Assembly Position
hg19 chr17:37,881,012-37,881,012
hg38 chr17:39,724,759-39,724,759 

HGVS

Type Transcript Protein
RefSeq NM_001289937.1:c.2340_2341insGGCTCCCCA NP_001276866.1:p.Gly778_Pro780dup
NM_001005862.2:c.2250_2251insGGCTCCCCA NP_001005862.1:p.Gly748_Pro750dup
NM_001289936.1:c.2250_2251insGGCTCCCCA NP_001276865.1:p.Gly748_Pro750dup
Summary

MGeND

Clinical significance not provided
Variant entry 6
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 COSM5752751 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		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 2013-03-06 criteria provided, single submitter Non-small cell lung carcinoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung adenocarcinoma Dacomitinib C Predictive Supports Sensitivity/Response Somatic 3 25899785 Detail
lung adenocarcinoma Afatinib C Predictive Supports Sensitivity/Response Somatic 3 22325357 Detail
lung non-small cell carcinoma Dacomitinib C Predictive Supports Sensitivity/Response Somatic 3 25899785 Detail
breast cancer Neratinib D Predictive Supports Sensitivity/Response Somatic 5 23220880 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In this phase II study (NCT00818441) of dacomitinib in HER2 amplified or mutant NSCLC tumors, three ... CIViC Evidence Detail
A Phase II study for use of Afatinib in non- or light smokers with lung adenocarcinoma. Three patien... CIViC Evidence Detail
Phase 2 trial of ERBB-inhibitor dacomitinib in stage IIIB/IV lung cancers with HER2 mutations or amp... CIViC Evidence Detail
In MCF10A cell lines, the in-frame insertion of a single amino acid at position 780 was shown to be ... CIViC Evidence Detail
NM_004448.4(ERBB2):c.2332_2340dup (p.Gly778_Pro780dup) AND Non-small cell lung carcinoma 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
rs397516982 dbSNP
Genome
hg19
Position
chr17:37,881,012-37,881,012
Variant Type
snv
Reference Allele
-
Alternative Allele
GGCTCCCCA
Variant (CIViC) (CIViC Variant)
P780INS
Transcript 1 (CIViC Variant)
ENST00000269571.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/41
Summary (CIViC Variant)
ERBB2 P780 insertion 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 activating mutations confer sensitivity to a host of tyrosine kinase inhibitors, which is the topic of current clinical trials and research.
Variant (CIViC) (CIViC Variant)
G778_P780DUP
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/817
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