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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000503736	Database of Curated Mutations (DoCM)	no assertion criteria provided	Pathogenic (Oct 2, 2014)	somatic	literature only	PubMed (7) [See all records that cite these PMIDs] 2674680, 16291983, 20179705, 18390968, 23414587, 20130576, 8120410 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000503736

Database of Curated Mutations (DoCM)

no assertion criteria provided

Pathogenic
(Oct 2, 2014)

somatic

literature only

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (7)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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