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NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2021
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:
RCV002254275.2

Allele description [Variation Report for NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)]

NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)

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.548G>A (p.Arg183Gln)
HGVS:
  • NC_000009.12:g.77797577C>T
  • NG_027904.2:g.238727G>A
  • NM_002072.5:c.548G>AMANE SELECT
  • NP_002063.2:p.Arg183Gln
  • LRG_1110t1:c.548G>A
  • LRG_1110:g.238727G>A
  • LRG_1110p1:p.Arg183Gln
  • NC_000009.11:g.80412493C>T
  • NM_002072.2:c.548G>A
  • NM_002072.4:c.548G>A
  • P50148:p.Arg183Gln
  • p.R183Q
Protein change:
R183Q; ARG183GLN
Links:
UniProtKB: P50148#VAR_067270; OMIM: 600998.0001; dbSNP: rs397514698
NCBI 1000 Genomes Browser:
rs397514698
Molecular consequence:
  • NM_002072.5:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
7

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
SCV002525658Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 1, 2021) 		somaticclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes7not providednot provided7not 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, SCV002525658.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
3not provided1not providednot providedclinical testing PubMed (1)
4not provided1not providednot providedclinical testing PubMed (1)
5not provided1not providednot providedclinical testing PubMed (1)
6not provided1not providednot providedclinical testing PubMed (1)
7not provided1not providednot providedclinical testing PubMed (1)

Description

This variant is a recurrent pathogenic variant that accounts for ~90% of individuals with non-syndromic port-wine stains and Sturge-Weber syndrome (MIM: 185300), which, along with congenital capillary malformations (MIM: 163000), is included within GNAQ-related disorder (PMID: 25374402, PMID: 23656586).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyes1not providednot provided1not providednot providednot provided
2somaticyes1not providednot provided1not providednot providednot provided
3somaticyes1not providednot provided1not providednot providednot provided
4somaticyes1not providednot provided1not providednot providednot provided
5somaticyes1not providednot provided1not providednot providednot provided
6somaticyes1not providednot provided1not providednot providednot provided
7somaticyes1not providednot provided1not providednot providednot provided

Last Updated: Aug 11, 2024