chr17:37881616:C>T Detail (hg19) (ERBB2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:37,881,616-37,881,616 |
| hg38 | chr17:39,725,363-39,725,363 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001005862.2:c.2596C>T | NP_001005862.1:p.Arg866Cys |
| NM_001289936.1:c.2596C>T | NP_001276865.1:p.Arg866Cys | |
| NM_001289937.1:c.2686C>T | NP_001276866.1:p.Arg896Cys |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.003 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
colon, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2014-10-02 | no assertion criteria provided | Breast neoplasm |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| breast cancer | Neratinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 5 | 23220880 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In MCF10A cell lines, the R896C mutation was shown to be sensitive to neratinib. | CIViC Evidence | Detail |
| NM_004448.4(ERBB2):c.2686C>T (p.Arg896Cys) 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
- rs758222990 dbSNP
- Genome
- hg19
- Position
- chr17:37,881,616-37,881,616
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1200
- Mean of sample read depth (HGVD)
- 50.46
- Standard deviation of sample read depth (HGVD)
- 23.44
- Number of reference allele (HGVD)
- 2392
- Number of alternative allele (HGVD)
- 8
- Allele Frequency (HGVD)
- 0.0033333333333333335
- Gene Symbol (HGVD)
- ERBB2
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121332
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.241848811525402E-6
- Variant (CIViC) (CIViC Variant)
- R896C
- Transcript 1 (CIViC Variant)
- ENST00000269571.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/43
- Summary (CIViC Variant)
- ERBB2 R896C 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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