chr17:39725079:G>A Detail (hg38) (ERBB2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:37,881,332-37,881,332 View the variant detail on this assembly version. |
| hg38 | chr17:39,725,079-39,725,079 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001289937.1:c.2524G>A | NP_001276866.1:p.Val842Ile |
| NM_001005862.2:c.2434G>A | NP_001005862.1:p.Val812Ile | |
| NM_001289936.1:c.2434G>A | NP_001276865.1:p.Val812Ile |
Summary
MGeND
| Clinical significance |
Likely pathogenic
|
| Variant entry | 4 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
2018/03/08 | uterine body cancer |
somatic
|
MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University | |||
|
Likely pathogenic
|
colorectal neoplasms, hereditary nonpolyposis |
somatic
|
MGS000043
(TMGS000096) |
Kohei Miyazono | Tokyo University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | uterine carcinosarcoma |
somatic
|
Detail |
Pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
somatic
|
Detail |
|
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 | gallbladder carcinoma |
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 | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
somatic
|
Detail |
|
Uncertain significance
|
2021-09-29 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| colon cancer | Trastuzumab,Lapatinib,Neratinib | 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 V842I mutation was shown to be sensitive to neratinib. | CIViC Evidence | Detail |
| NM_004448.4(ERBB2):c.2524G>A (p.Val842Ile) AND Uterine carcinosarcoma | ClinVar | Detail |
| NM_004448.4(ERBB2):c.2524G>A (p.Val842Ile) AND Breast neoplasm | ClinVar | Detail |
| NM_004448.4(ERBB2):c.2524G>A (p.Val842Ile) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_004448.4(ERBB2):c.2524G>A (p.Val842Ile) AND Gallbladder carcinoma | ClinVar | Detail |
| NM_004448.4(ERBB2):c.2524G>A (p.Val842Ile) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_004448.4(ERBB2):c.2524G>A (p.Val842Ile) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_004448.4(ERBB2):c.2524G>A (p.Val842Ile) AND Pancreatic adenocarcinoma | ClinVar | Detail |
| NM_004448.4(ERBB2):c.2524G>A (p.Val842Ile) AND not provided | 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
- rs1057519738 dbSNP
- Genome
- hg38
- Position
- chr17:39,725,079-39,725,079
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- V842I
- Transcript 1 (CIViC Variant)
- ENST00000269571.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/45
- Summary (CIViC Variant)
- ERBB2 V842I 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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