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

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:
RCV000428010.3

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:
Ovarian neoplasm
Synonyms:
Neoplasm of ovary; Ovarian tumor; Ovarian Neoplasms
Identifiers:
MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; Human Phenotype Ontology: HP:0100615

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000504473Database of Curated Mutations (DoCM)
no assertion criteria provided
Pathogenic
(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

Citations

PubMed

KRAS or BRAF mutation status is a useful predictor of sensitivity to MEK inhibition in ovarian cancer.

Nakayama N, Nakayama K, Yeasmin S, Ishibashi M, Katagiri A, Iida K, Fukumoto M, Miyazaki K.

Br J Cancer. 2008 Dec 16;99(12):2020-8. doi: 10.1038/sj.bjc.6604783. Epub 2008 Nov 18.

PubMed [citation]
PMID:
19018267
PMCID:
PMC2607229

Epidermal growth factor receptor blockers for the treatment of ovarian cancer.

Haldar K, Gaitskell K, Bryant A, Nicum S, Kehoe S, Morrison J.

Cochrane Database Syst Rev. 2011 Oct 5;(10):CD007927. doi: 10.1002/14651858.CD007927.pub3. Review. Update in: Cochrane Database Syst Rev. 2018 Oct 16;10:CD007927. doi: 10.1002/14651858.CD007927.pub4.

PubMed [citation]
PMID:
21975775

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504473.1

#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 8, 2024