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NM_001654.5(ARAF):c.641C>G (p.Ser214Cys) AND Non-small cell lung carcinoma

Germline classification:
not provided (1 submission)
Last evaluated:
Mar 10, 2016
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000419218.1

Allele description [Variation Report for NM_001654.5(ARAF):c.641C>G (p.Ser214Cys)]

NM_001654.5(ARAF):c.641C>G (p.Ser214Cys)

Gene:
ARAF:A-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.3
Genomic location:
Preferred name:
NM_001654.5(ARAF):c.641C>G (p.Ser214Cys)
HGVS:
  • NC_000023.11:g.47566722C>G
  • NG_016339.2:g.10606C>G
  • NM_001256196.2:c.650C>G
  • NM_001654.5:c.641C>GMANE SELECT
  • NP_001243125.1:p.Ser217Cys
  • NP_001645.1:p.Ser214Cys
  • NC_000023.10:g.47426121C>G
Protein change:
S214C
Links:
dbSNP: rs1057519786
NCBI 1000 Genomes Browser:
rs1057519786
Molecular consequence:
  • NM_001256196.2:c.650C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001654.5:c.641C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Non-small cell lung carcinoma (NSCLC)
Synonyms:
Non-small cell lung cancer
Identifiers:
MONDO: MONDO:0005233; MeSH: D002289; MedGen: C0007131; Human Phenotype Ontology: HP:0030358

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000505157Database of Curated Mutations (DoCM)
no classification provided
not providedsomaticliterature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Oncogenic and sorafenib-sensitive ARAF mutations in lung adenocarcinoma.

Imielinski M, Greulich H, Kaplan B, Araujo L, Amann J, Horn L, Schiller J, Villalona-Calero MA, Meyerson M, Carbone DP.

J Clin Invest. 2014 Apr;124(4):1582-6. doi: 10.1172/JCI72763. Epub 2014 Feb 24.

PubMed [citation]
PMID:
24569458
PMCID:
PMC3973082

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505157.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 16, 2023