U.S. flag

An official website of the United States government

NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) AND Melanoma

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:
RCV000444217.1

Allele description [Variation Report for NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)]

NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)

Gene:
NRAS:NRAS proto-oncogene, GTPase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)
Other names:
p.G12R:GGT>CGT
HGVS:
  • NC_000001.11:g.114716127C>G
  • NG_007572.1:g.5768G>C
  • NM_002524.5:c.34G>CMANE SELECT
  • NP_002515.1:p.Gly12Arg
  • LRG_92t1:c.34G>C
  • LRG_92:g.5768G>C
  • NC_000001.10:g.115258748C>G
  • NM_002524.3:c.34G>C
Protein change:
G12R
Links:
dbSNP: rs121913250
NCBI 1000 Genomes Browser:
rs121913250
Molecular consequence:
  • NM_002524.5:c.34G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Melanoma
Identifiers:
MONDO: MONDO:0005105; MeSH: D008545; MedGen: C0025202; Human Phenotype Ontology: HP:0002861

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000503736Database of Curated Mutations (DoCM)
no assertion criteria provided
Pathogenic
(Oct 2, 2014) 		somaticliterature only

PubMed (7)
[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

N-ras mutations in human cutaneous melanoma from sun-exposed body sites.

van 't Veer LJ, Burgering BM, Versteeg R, Boot AJ, Ruiter DJ, Osanto S, Schrier PI, Bos JL.

Mol Cell Biol. 1989 Jul;9(7):3114-6.

PubMed [citation]
PMID:
2674680
PMCID:
PMC362784

Distinct sets of genetic alterations in melanoma.

Curtin JA, Fridlyand J, Kageshita T, Patel HN, Busam KJ, Kutzner H, Cho KH, Aiba S, Bröcker EB, LeBoit PE, Pinkel D, Bastian BC.

N Engl J Med. 2005 Nov 17;353(20):2135-47.

PubMed [citation]
PMID:
16291983
See all PubMed Citations (7)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000503736.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (7)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024