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NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg) 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:
RCV000442822.1

Allele description [Variation Report for NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg)]

NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg)

Gene:
GNAQ:G protein subunit alpha q [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q21.2
Genomic location:
Preferred name:
NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg)
HGVS:
  • NC_000009.12:g.77794572T>C
  • NG_027904.2:g.241732A>G
  • NM_002072.5:c.626A>GMANE SELECT
  • NP_002063.2:p.Gln209Arg
  • LRG_1110t1:c.626A>G
  • LRG_1110:g.241732A>G
  • LRG_1110p1:p.Gln209Arg
  • NC_000009.11:g.80409488T>C
  • NM_002072.4:c.626A>G
Protein change:
Q209R
Links:
dbSNP: rs121913492
NCBI 1000 Genomes Browser:
rs121913492
Molecular consequence:
  • NM_002072.5:c.626A>G - 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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000504360Database of Curated Mutations (DoCM)
no assertion criteria provided
Pathogenic
(Oct 2, 2014)
somaticliterature only

PubMed (9)
[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

Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi.

Van Raamsdonk CD, Bezrookove V, Green G, Bauer J, Gaugler L, O'Brien JM, Simpson EM, Barsh GS, Bastian BC.

Nature. 2009 Jan 29;457(7229):599-602. doi: 10.1038/nature07586. Epub 2008 Dec 10.

PubMed [citation]
PMID:
19078957
PMCID:
PMC2696133

Oncogenic mutations in GNAQ occur early in uveal melanoma.

Onken MD, Worley LA, Long MD, Duan S, Council ML, Bowcock AM, Harbour JW.

Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5230-4. doi: 10.1167/iovs.08-2145. Epub 2008 Aug 21.

PubMed [citation]
PMID:
18719078
PMCID:
PMC2634606
See all PubMed Citations (9)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504360.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (9)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 30, 2023