chrX:47426121:C>G Detail (hg19) (ARAF)

Information

Genome

Assembly Position
hg19 chrX:47,426,121-47,426,121
hg38 chrX:47,566,722-47,566,722 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000377045.9:c.641C>G ENST00000377045.9:p.Ser214Cys
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 311010 OMIM
HGNC 646 HGNC
Ensembl ENSG00000078061 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM5044705 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
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

DescrptionSourceLinks
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
hg19
Position
chrX:47,426,121-47,426,121
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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