chr17:39724747:G>T Detail (hg38) (ERBB2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:37,881,000-37,881,000 View the variant detail on this assembly version. |
| hg38 | chr17:39,724,747-39,724,747 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001005862.2:c.2239G>T | NP_001005862.1:p.Val747Leu |
| NM_001289936.1:c.2239G>T | NP_001276865.1:p.Val747Leu | |
| NM_004448.3:c.2329G>T | NP_004439.2:p.Val777Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
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
| Descrption | Source | Links |
|---|---|---|
| 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
- hg38
- Position
- chr17:39,724,747-39,724,747
- 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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