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NM_004985.5(KRAS):c.35G>T (p.Gly12Val) AND Neoplasm of the large intestine

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 14, 2015
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:
RCV000439101.3

Allele description [Variation Report for NM_004985.5(KRAS):c.35G>T (p.Gly12Val)]

NM_004985.5(KRAS):c.35G>T (p.Gly12Val)

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.35G>T (p.Gly12Val)
Other names:
p.G12V:GGT>GTT; NP_004976.2:p.Gly12Val
HGVS:
  • NC_000012.12:g.25245350C>A
  • NG_007524.2:g.10654G>T
  • NM_001369786.1:c.35G>T
  • NM_001369787.1:c.35G>T
  • NM_004985.5:c.35G>TMANE SELECT
  • NM_033360.4:c.35G>T
  • NP_001356715.1:p.Gly12Val
  • NP_001356716.1:p.Gly12Val
  • NP_004976.2:p.Gly12Val
  • NP_203524.1:p.Gly12Val
  • LRG_344t1:c.35G>T
  • LRG_344t2:c.35G>T
  • LRG_344:g.10654G>T
  • LRG_344p1:p.Gly12Val
  • LRG_344p2:p.Gly12Val
  • NC_000012.11:g.25398284C>A
  • NG_007524.1:g.10571G>T
  • NM_004985.3:c.35G>T
  • NM_004985.4:c.35G>T
  • NM_033360.2:c.35G>T
  • P01116:p.Gly12Val
Protein change:
G12V; GLY12VAL
Links:
UniProtKB: P01116#VAR_006840; OMIM: 190070.0006; OMIM: 190070.0026; dbSNP: rs121913529
NCBI 1000 Genomes Browser:
rs121913529
Molecular consequence:
  • NM_001369786.1:c.35G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369787.1:c.35G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004985.5:c.35G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033360.4:c.35G>T - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000504474Database of Curated Mutations (DoCM)
no assertion criteria provided
Pathogenic
(Jul 14, 2015)
somaticliterature only

PubMed (11)
[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

Efficacy according to biomarker status of cetuximab plus FOLFOX-4 as first-line treatment for metastatic colorectal cancer: the OPUS study.

Bokemeyer C, Bondarenko I, Hartmann JT, de Braud F, Schuch G, Zubel A, Celik I, Schlichting M, Koralewski P.

Ann Oncol. 2011 Jul;22(7):1535-1546. doi: 10.1093/annonc/mdq632. Epub 2011 Jan 12.

PubMed [citation]
PMID:
21228335

Randomized phase III study of panitumumab with fluorouracil, leucovorin, and irinotecan (FOLFIRI) compared with FOLFIRI alone as second-line treatment in patients with metastatic colorectal cancer.

Peeters M, Price TJ, Cervantes A, Sobrero AF, Ducreux M, Hotko Y, André T, Chan E, Lordick F, Punt CJ, Strickland AH, Wilson G, Ciuleanu TE, Roman L, Van Cutsem E, Tzekova V, Collins S, Oliner KS, Rong A, Gansert J.

J Clin Oncol. 2010 Nov 1;28(31):4706-13. doi: 10.1200/JCO.2009.27.6055. Epub 2010 Oct 4.

PubMed [citation]
PMID:
20921462
See all PubMed Citations (11)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504474.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (11)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024