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

Germline classification:: Pathogenic (1 submission)
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:: RCV001526543.3

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]

Condition(s)

Name:: Hemangiomatosis
Identifiers:: MedGen: C1384590; Human Phenotype Ontology: HP:0007461

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PREDICTED: Rattus norvegicus prolyl 4-hydroxylase subunit alpha 1 (P4ha1), trans...
PREDICTED: Rattus norvegicus prolyl 4-hydroxylase subunit alpha 1 (P4ha1), transcript variant X2, mRNA
gi|2678925430|ref|XM_006256424.5|

Nucleotide
Tssr30352 AND (alive[prop]) (0)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001736968	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	somatic	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001736968

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

somatic

clinical testing

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

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	clinical 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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV001736968.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	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: Aug 11, 2024

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