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NM_002072.5(GNAQ):c.627A>T (p.Gln209His) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 31, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002254353.2

Allele description [Variation Report for NM_002072.5(GNAQ):c.627A>T (p.Gln209His)]

NM_002072.5(GNAQ):c.627A>T (p.Gln209His)

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.627A>T (p.Gln209His)
HGVS:
  • NC_000009.12:g.77794571T>A
  • NG_027904.2:g.241733A>T
  • NM_002072.5:c.627A>TMANE SELECT
  • NP_002063.2:p.Gln209His
  • LRG_1110t1:c.627A>T
  • LRG_1110:g.241733A>T
  • LRG_1110p1:p.Gln209His
  • NC_000009.11:g.80409487T>A
  • NM_002072.3:c.627A>T
Protein change:
Q209H
Links:
dbSNP: rs2118444312
NCBI 1000 Genomes Browser:
rs2118444312
Molecular consequence:
  • NM_002072.5:c.627A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002525662Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 31, 2022) 		somaticclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002525662.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant has previously been reported as a somatic change in patients with vascular anomalies (PMID: 27058448, PMID: 30677207, PMID: 29574926) and is absent from large population databases (Genome Aggregation Database v2.1.1). Somatic mutations altering amino acid residue p.Gln209 have been described in multiple vascular anomalies (PMID: 27058448, PMID: 30677207, PMID: 29574926) Alteration of p.Gln209 in GNAQ is a recurrent oncogenic hotspot reported in the cBioPortal and NCI Genomic Data Commons cancer databases, with p.Gln209His reported in multiple melanoma samples (PMID: 24882516).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024