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NM_033360.4(KRAS):c.436G>C (p.Ala146Pro) AND Neoplasm of the large intestine

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:
RCV000444020.1

Allele description [Variation Report for NM_033360.4(KRAS):c.436G>C (p.Ala146Pro)]

NM_033360.4(KRAS):c.436G>C (p.Ala146Pro)

Gene:
KRAS:KRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_033360.4(KRAS):c.436G>C (p.Ala146Pro)
HGVS:
  • NC_000012.12:g.25225628C>G
  • NG_007524.2:g.30376G>C
  • NM_001369786.1:c.436G>C
  • NM_001369787.1:c.436G>C
  • NM_004985.5:c.436G>CMANE SELECT
  • NM_033360.4:c.436G>C
  • NP_001356715.1:p.Ala146Pro
  • NP_001356716.1:p.Ala146Pro
  • NP_004976.2:p.Ala146Pro
  • NP_203524.1:p.Ala146Pro
  • LRG_344t1:c.436G>C
  • LRG_344t2:c.436G>C
  • LRG_344:g.30376G>C
  • LRG_344p1:p.Ala146Pro
  • LRG_344p2:p.Ala146Pro
  • NC_000012.11:g.25378562C>G
  • NG_007524.1:g.30293G>C
  • p.A146P
Protein change:
A146P
Links:
dbSNP: rs121913527
NCBI 1000 Genomes Browser:
rs121913527
Molecular consequence:
  • NM_001369786.1:c.436G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369787.1:c.436G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004985.5:c.436G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033360.4:c.436G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neoplasm of the large intestine
Synonyms:
Colorectal Neoplasms; Colorectal neoplasm
Identifiers:
MONDO: MONDO:0005335; MeSH: D015179; MedGen: C0009404; Human Phenotype Ontology: HP:0100834

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000504417Database of Curated Mutations (DoCM)
no assertion criteria provided
Pathogenic
(Oct 2, 2014) 		somaticliterature only

PubMed (8)
[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

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

Wild-type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer.

Amado RG, Wolf M, Peeters M, Van Cutsem E, Siena S, Freeman DJ, Juan T, Sikorski R, Suggs S, Radinsky R, Patterson SD, Chang DD.

J Clin Oncol. 2008 Apr 1;26(10):1626-34. doi: 10.1200/JCO.2007.14.7116. Epub 2008 Mar 3.

PubMed [citation]
PMID:
18316791
See all PubMed Citations (8)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504417.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024