NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro) 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:: RCV000425312.1

Allele description [Variation Report for NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro)]

NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro)

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>C (p.Gln209Pro)

HGVS:

NC_000009.12:g.77794572T>G
NG_027904.2:g.241732A>C
NM_002072.5:c.626A>CMANE SELECT
NP_002063.2:p.Gln209Pro
LRG_1110t1:c.626A>C
LRG_1110:g.241732A>C
LRG_1110p1:p.Gln209Pro
NC_000009.11:g.80409488T>G

Protein change:

Q209P

Links:

dbSNP: rs121913492

NCBI 1000 Genomes Browser:

rs121913492

Molecular consequence:

NM_002072.5:c.626A>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
SCV000504361	Database of Curated Mutations (DoCM)	no assertion criteria provided	Pathogenic (Oct 2, 2014)	somatic	literature only	PubMed (9) [See all records that cite these PMIDs] 21083380, 2549426, 22733540, 19078957, 22653968, 22253748, 22808163, 1328859, 18719078 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000504361

Database of Curated Mutations (DoCM)

no assertion criteria provided

Pathogenic
(Oct 2, 2014)

somatic

literature only

PubMed (9)
[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

Mutations in GNA11 in uveal melanoma.

Van Raamsdonk CD, Griewank KG, Crosby MB, Garrido MC, Vemula S, Wiesner T, Obenauf AC, Wackernagel W, Green G, Bouvier N, Sozen MM, Baimukanova G, Roy R, Heguy A, Dolgalev I, Khanin R, Busam K, Speicher MR, O'Brien J, Bastian BC.

N Engl J Med. 2010 Dec 2;363(23):2191-9. doi: 10.1056/NEJMoa1000584. Epub 2010 Nov 17.

PubMed [citation]

PMID:: 21083380
PMCID:: PMC3107972

GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours.

Landis CA, Masters SB, Spada A, Pace AM, Bourne HR, Vallar L.

Nature. 1989 Aug 31;340(6236):692-6.

PubMed [citation]

PMID:: 2549426

See all PubMed Citations (9)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504361.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (9)

#	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: Jul 16, 2023

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