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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 19, 2016
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:
RCV000533476.3

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:
1

Condition(s)

Name:
Capillary malformation (CMC)
Synonyms:
CAPILLARY MALFORMATIONS; Capillary malformations, congenital
Identifiers:
MONDO: MONDO:0016231; MedGen: C0340803; Human Phenotype Ontology: HP:0025104
Name:
Sturge-Weber syndrome (SWS)
Synonyms:
Encephalotrigeminal angiomatosis; Fourth phacomatosis; Meningeal capillary angiomatosis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008501; MedGen: C0038505; Orphanet: 3205; OMIM: 185300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000622156Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 19, 2016) 		somaticclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asiansomaticyes1not 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 Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000622156.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian1not providednot providedclinical testing PubMed (1)

Description

This variant has been described in multiple affected individuals with a mosaic etiology (PMID 26778290)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providedAffected and unaffected skin samples were assayed for the variant; mosaicism was identified only in affected skin sample.not provided1not providednot providednot provided

Last Updated: Aug 11, 2024