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NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) 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:
RCV000431260.1

Allele description [Variation Report for NM_004985.5(KRAS):c.182A>G (p.Gln61Arg)]

NM_004985.5(KRAS):c.182A>G (p.Gln61Arg)

Gene:
KRAS:KRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg)
HGVS:
  • NC_000012.12:g.25227342T>C
  • NG_007524.2:g.28662A>G
  • NM_001369786.1:c.182A>G
  • NM_001369787.1:c.182A>G
  • NM_004985.5:c.182A>GMANE SELECT
  • NM_033360.4:c.182A>G
  • NP_001356715.1:p.Gln61Arg
  • NP_001356716.1:p.Gln61Arg
  • NP_004976.2:p.Gln61Arg
  • NP_203524.1:p.Gln61Arg
  • LRG_344t1:c.182A>G
  • LRG_344t2:c.182A>G
  • LRG_344:g.28662A>G
  • LRG_344p1:p.Gln61Arg
  • LRG_344p2:p.Gln61Arg
  • NC_000012.11:g.25380276T>C
  • NG_007524.1:g.28579A>G
  • NM_004985.3:c.182A>G
  • NM_004985.4:c.182A>G
  • P01116:p.Gln61Arg
  • c.182A>G
Protein change:
Q61R
Links:
UniProtKB: P01116#VAR_036306; dbSNP: rs121913240
NCBI 1000 Genomes Browser:
rs121913240
Molecular consequence:
  • NM_001369786.1:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369787.1:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004985.5:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033360.4:c.182A>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
SCV000504447Database of Curated Mutations (DoCM)
no assertion criteria provided
Pathogenic
(Oct 2, 2014) 		somaticliterature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Frequency and distinctive spectrum of KRAS mutations in never smokers with lung adenocarcinoma.

Riely GJ, Kris MG, Rosenbaum D, Marks J, Li A, Chitale DA, Nafa K, Riedel ER, Hsu M, Pao W, Miller VA, Ladanyi M.

Clin Cancer Res. 2008 Sep 15;14(18):5731-4. doi: 10.1158/1078-0432.CCR-08-0646.

PubMed [citation]
PMID:
18794081
PMCID:
PMC2754127

BRAF and RAS mutations in human lung cancer and melanoma.

Brose MS, Volpe P, Feldman M, Kumar M, Rishi I, Gerrero R, Einhorn E, Herlyn M, Minna J, Nicholson A, Roth JA, Albelda SM, Davies H, Cox C, Brignell G, Stephens P, Futreal PA, Wooster R, Stratton MR, Weber BL.

Cancer Res. 2002 Dec 1;62(23):6997-7000.

PubMed [citation]
PMID:
12460918

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504447.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 11, 2024