NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg) AND Abnormal cardiovascular system morphology

Germline classification:: Pathogenic (1 submission)
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:: RCV001327979.1

Allele description [Variation Report for NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg)]

NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg)

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>G (p.Gln209Arg)

HGVS:

NC_000009.12:g.77794572T>C
NG_027904.2:g.241732A>G
NM_002072.5:c.626A>GMANE SELECT
NP_002063.2:p.Gln209Arg
LRG_1110t1:c.626A>G
LRG_1110:g.241732A>G
LRG_1110p1:p.Gln209Arg
NC_000009.11:g.80409488T>C
NM_002072.4:c.626A>G

Protein change:

Q209R

Links:

dbSNP: rs121913492

NCBI 1000 Genomes Browser:

rs121913492

Molecular consequence:

NM_002072.5:c.626A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Abnormal cardiovascular system morphology
Synonyms:: Abnormality of cardiovascular system morphology
Identifiers:: MedGen: C4049796; Human Phenotype Ontology: HP:0030680

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001437655	MAGI's Lab - Research, MAGI Group	no assertion criteria provided	Pathogenic	somatic	provider interpretation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001437655

MAGI's Lab - Research, MAGI Group

no assertion criteria provided

Pathogenic

somatic

provider interpretation

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	provider interpretation

Details of each submission

From MAGI's Lab - Research, MAGI Group, SCV001437655.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	provider interpretation	not provided

#	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: Dec 30, 2023

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