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NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) 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:
RCV000426369.9

Allele description [Variation Report for NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)]

NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)

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>A (p.Gly12Asp)
HGVS:
  • NC_000012.12:g.25245350C>T
  • NG_007524.2:g.10654G>A
  • NM_001369786.1:c.35G>A
  • NM_001369787.1:c.35G>A
  • NM_004985.5:c.35G>AMANE SELECT
  • NM_033360.4:c.35G>A
  • NP_001356715.1:p.Gly12Asp
  • NP_001356716.1:p.Gly12Asp
  • NP_004976.2:p.Gly12Asp
  • NP_203524.1:p.Gly12Asp
  • LRG_344t1:c.35G>A
  • LRG_344t2:c.35G>A
  • LRG_344:g.10654G>A
  • LRG_344p1:p.Gly12Asp
  • LRG_344p2:p.Gly12Asp
  • NC_000012.11:g.25398284C>T
  • NG_007524.1:g.10571G>A
  • NM_004985.3:c.35G>A
  • NM_004985.4:c.35G>A
  • NM_033360.2:c.35G>A
  • NM_033360.3:c.35G>A
  • P01116:p.Gly12Asp
Protein change:
G12D; GLY12ASP
Links:
UniProtKB: P01116#VAR_016026; OMIM: 190070.0005; OMIM: 190070.0025; dbSNP: rs121913529
NCBI 1000 Genomes Browser:
rs121913529
Molecular consequence:
  • NM_001369786.1:c.35G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369787.1:c.35G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004985.5:c.35G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033360.4:c.35G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on catalytic protein function [Variation Ontology: 0008]

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
SCV000504481Database 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

Summary from all submissions

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

Citations

PubMed

Randomized phase II trial of the clinical and biological effects of two dose levels of gefitinib in patients with recurrent colorectal adenocarcinoma.

Rothenberg ML, LaFleur B, Levy DE, Washington MK, Morgan-Meadows SL, Ramanathan RK, Berlin JD, Benson AB 3rd, Coffey RJ.

J Clin Oncol. 2005 Dec 20;23(36):9265-74.

PubMed [citation]
PMID:
16361624

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 (8)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504481.1

#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: Nov 24, 2024