NM_033360.3(KRAS):c.183A>T (p.Gln61His) AND Non-small cell lung cancer

Clinical significance:Pathogenic (Last evaluated: Oct 2, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000038259.3

Allele description [Variation Report for NM_033360.3(KRAS):c.183A>T (p.Gln61His)]

NM_033360.3(KRAS):c.183A>T (p.Gln61His)

Gene:
KRAS:KRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_033360.3(KRAS):c.183A>T (p.Gln61His)
HGVS:
  • NC_000012.12:g.25227341T>A
  • NG_007524.1:g.28580A>T
  • NM_004985.4:c.183A>T
  • NM_033360.3:c.183A>T
  • NP_004976.2:p.Gln61His
  • NP_203524.1:p.Gln61His
  • NC_000012.11:g.25380275T>A
  • NM_004985.3:c.183A>T
  • P01116:p.Gln61His
  • c.183A>T
Protein change:
Q61H
Links:
UniProtKB: P01116#VAR_006841; dbSNP: rs17851045
NCBI 1000 Genomes Browser:
rs17851045
Molecular consequence:
  • NM_004985.4:c.183A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
15

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000061928Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicineno assertion criteria providedPathogenic
(Dec 7, 2007)
somaticclinical testing

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

SCV000504427Database of Curated Mutations (DoCM)no assertion criteria providedPathogenic
(Oct 2, 2014)
somaticliterature only

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only
not providedsomaticnot provided1615not providednot providednot providedclinical testing

Citations

PubMed

KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib.

Pao W, Wang TY, Riely GJ, Miller VA, Pan Q, Ladanyi M, Zakowski MF, Heelan RT, Kris MG, Varmus HE.

PLoS Med. 2005 Jan;2(1):e17. Epub 2005 Jan 25.

PubMed [citation]
PMID:
15696205
PMCID:
PMC545207

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
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000061928.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided16not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot provided16not provided15not provided

From Database of Curated Mutations (DoCM), SCV000504427.1

#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: Oct 13, 2018