chr17:39724008:G>T Detail (hg38) (ERBB2)

Information

Genome

Assembly Position
hg19 chr17:37,880,261-37,880,261 View the variant detail on this assembly version.
hg38 chr17:39,724,008-39,724,008

HGVS

Type Transcript Protein
RefSeq NM_004448.3:c.2305G>T NP_004439.2:p.Asp769Tyr
NM_001289937.1:c.2305G>T NP_001276866.1:p.Asp769Tyr
NM_001005862.2:c.2215G>T NP_001005862.1:p.Asp739Tyr
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic 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 COSM5219941 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic salivary gland neoplasms somatic MGS000044
(TMGS000097) 		Kohei Miyazono Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Carcinoma of esophagus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of uterine cervix 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
breast cancer Neratinib D Predictive Supports Sensitivity/Response Somatic 4 23220880 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In MCF10A cell lines, the D769Y mutation was shown to be sensitive to neratinib. CIViC Evidence Detail
NM_004448.4(ERBB2):c.2305G>T (p.Asp769Tyr) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_004448.4(ERBB2):c.2305G>T (p.Asp769Tyr) AND Breast neoplasm ClinVar Detail
NM_004448.4(ERBB2):c.2305G>T (p.Asp769Tyr) AND Carcinoma of esophagus ClinVar Detail
NM_004448.4(ERBB2):c.2305G>T (p.Asp769Tyr) AND Neoplasm of uterine cervix ClinVar Detail
NM_004448.4(ERBB2):c.2305G>T (p.Asp769Tyr) 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
rs121913468 dbSNP
Genome
hg38
Position
chr17:39,724,008-39,724,008
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
D769Y
Transcript 1 (CIViC Variant)
ENST00000269571.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/36
Summary (CIViC Variant)
ERBB2 D769Y 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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