chr17:39724008:G>C 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>C | NP_004439.2:p.Asp769His |
| NM_001289937.1:c.2305G>C | NP_001276866.1:p.Asp769His | |
| NM_001005862.2:c.2215G>C | NP_001005862.1:p.Asp739His |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Carcinoma of esophagus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of uterine cervix |
somatic
|
Detail |
|
Pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| breast cancer | Neratinib,Lapatinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 23220880 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In MCF10A cell lines, the D769H mutation was shown to be sensitive to neratinib. | CIViC Evidence | Detail |
| NM_004448.4(ERBB2):c.2305G>C (p.Asp769His) AND Carcinoma of esophagus | ClinVar | Detail |
| NM_004448.4(ERBB2):c.2305G>C (p.Asp769His) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_004448.4(ERBB2):c.2305G>C (p.Asp769His) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_004448.4(ERBB2):c.2305G>C (p.Asp769His) AND Neoplasm of uterine cervix | ClinVar | Detail |
| NM_004448.4(ERBB2):c.2305G>C (p.Asp769His) AND Breast neoplasm | 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
- C
- Variant (CIViC) (CIViC Variant)
- D769H
- Transcript 1 (CIViC Variant)
- ENST00000269571.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/35
- Summary (CIViC Variant)
- ERBB2 D769H 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 were 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.
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