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NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) AND Non-small cell lung carcinoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 2, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000425150.1

Allele description [Variation Report for NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)]

NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)

Gene:
NRAS:NRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)
Other names:
p.G12R:GGT>CGT
HGVS:
  • NC_000001.11:g.114716127C>G
  • NG_007572.1:g.5768G>C
  • NM_002524.5:c.34G>CMANE SELECT
  • NP_002515.1:p.Gly12Arg
  • LRG_92t1:c.34G>C
  • LRG_92:g.5768G>C
  • NC_000001.10:g.115258748C>G
  • NM_002524.3:c.34G>C
Protein change:
G12R
Links:
dbSNP: rs121913250
NCBI 1000 Genomes Browser:
rs121913250
Molecular consequence:
  • NM_002524.5:c.34G>C - 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
SCV000503737Database of Curated Mutations (DoCM)
no assertion criteria provided
Pathogenic
(Oct 2, 2014) 		somaticliterature only

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Characteristics of lung cancers harboring NRAS mutations.

Ohashi K, Sequist LV, Arcila ME, Lovly CM, Chen X, Rudin CM, Moran T, Camidge DR, Vnencak-Jones CL, Berry L, Pan Y, Sasaki H, Engelman JA, Garon EB, Dubinett SM, Franklin WA, Riely GJ, Sos ML, Kris MG, Dias-Santagata D, Ladanyi M, Bunn PA Jr, et al.

Clin Cancer Res. 2013 May 1;19(9):2584-91. doi: 10.1158/1078-0432.CCR-12-3173. Epub 2013 Mar 20.

PubMed [citation]
PMID:
23515407
PMCID:
PMC3643999

Somatic mutations affect key pathways in lung adenocarcinoma.

Ding L, Getz G, Wheeler DA, Mardis ER, McLellan MD, Cibulskis K, Sougnez C, Greulich H, Muzny DM, Morgan MB, Fulton L, Fulton RS, Zhang Q, Wendl MC, Lawrence MS, Larson DE, Chen K, Dooling DJ, Sabo A, Hawes AC, Shen H, Jhangiani SN, et al.

Nature. 2008 Oct 23;455(7216):1069-75. doi: 10.1038/nature07423.

PubMed [citation]
PMID:
18948947
PMCID:
PMC2694412
See all PubMed Citations (3)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000503737.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024