chrX:47566722:C>G Detail (hg38) (ARAF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:47,426,121-47,426,121 View the variant detail on this assembly version. |
| hg38 | chrX:47,566,722-47,566,722 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000377045.9:c.641C>G | ENST00000377045.9:p.Ser214Cys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
not provided
|
2016-03-10 | no assertion provided | Non-small cell lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Papillary renal cell carcinoma, sporadic |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| lung non-small cell carcinoma | Sorafenib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 24569458 | Detail |
| lung non-small cell carcinoma | Sorafenib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 24569458 | Detail |
| lung non-small cell carcinoma | Trametinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 24569458 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In one patient with S214C mutation, the use of sorafenib has led to more than 5 years of survival an... | CIViC Evidence | Detail |
| Sorafenib can inhibit ARF-mediated MEK phosphorylation and soft agar colony formation of AALE cells ... | CIViC Evidence | Detail |
| Trametinib can inhibit ARF-mediated ERK phosphorylation and soft agar colony formation of AALE cells... | CIViC Evidence | Detail |
| NM_001654.5(ARAF):c.641C>G (p.Ser214Cys) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_001654.5(ARAF):c.641C>G (p.Ser214Cys) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_001654.5(ARAF):c.641C>G (p.Ser214Cys) AND Papillary renal cell carcinoma, sporadic | ClinVar | Detail |
| NM_001654.5(ARAF):c.641C>G (p.Ser214Cys) AND Lung 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
- rs1057519786 dbSNP
- Genome
- hg38
- Position
- chrX:47,566,722-47,566,722
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- S214C
- Transcript 1 (CIViC Variant)
- ENST00000377045.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/10
- Summary (CIViC Variant)
- ARAF S214C has been found to be a recurrent oncogenic mutation in non-small cell lung cancer. It has been shown to confer sensitivity to sorafenib and trametenib in cell lines. In a case study of advanced stage lung adenocarcinoma harboring this mutation, sorafenib also acheived near-complete clinical remission. This case has brought more interest to the variant from a research and clinical perspective.
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