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

Clinical significance:Pathogenic (Last evaluated: May 31, 2016)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000417543.1

Allele description

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]

Condition(s)

Name:
Colorectal Neoplasms
Identifiers:
MeSH: D015179; MedGen: CN236642

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000504426Database of Curated Mutations (DoCM)no assertion criteria providedPathogenic
(May 31, 2016)
somaticliterature only

PubMed (12)
[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

Citations

PubMed

Massively parallel tumor multigene sequencing to evaluate response to panitumumab in a randomized phase III study of metastatic colorectal cancer.

Peeters M, Oliner KS, Parker A, Siena S, Van Cutsem E, Huang J, Humblet Y, Van Laethem JL, André T, Wiezorek J, Reese D, Patterson SD.

Clin Cancer Res. 2013 Apr 1;19(7):1902-12. doi: 10.1158/1078-0432.CCR-12-1913. Epub 2013 Jan 16.

PubMed [citation]
PMID:
23325582

KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer.

Lièvre A, Bachet JB, Le Corre D, Boige V, Landi B, Emile JF, Côté JF, Tomasic G, Penna C, Ducreux M, Rougier P, Penault-Llorca F, Laurent-Puig P.

Cancer Res. 2006 Apr 15;66(8):3992-5.

PubMed [citation]
PMID:
16618717
See all PubMed Citations (12)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504426.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (12)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2017