NM_020988.3(GNAO1):c.626G>A (p.Arg209His) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 8, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000255659.8

Allele description [Variation Report for NM_020988.3(GNAO1):c.626G>A (p.Arg209His)]

NM_020988.3(GNAO1):c.626G>A (p.Arg209His)

Gene:

GNAO1:G protein subunit alpha o1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q13

Genomic location:

Preferred name:

NM_020988.3(GNAO1):c.626G>A (p.Arg209His)

HGVS:

NC_000016.10:g.56336763G>A
NG_042800.1:g.150425G>A
NM_020988.3:c.626G>AMANE SELECT
NM_138736.3:c.626G>A
NP_066268.1:p.Arg209His
NP_620073.2:p.Arg209His
NC_000016.9:g.56370675G>A
NM_020988.2:c.626G>A
NM_138736.2:c.626G>A

Protein change:

R209H; ARG209HIS

Links:

OMIM: 139311.0005; dbSNP: rs797044878

NCBI 1000 Genomes Browser:

rs797044878

Molecular consequence:

NM_020988.3:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_138736.3:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Coronidium scorpioides isolate ASL601 matK-psbA intergenic spacer, partial seque...
Coronidium scorpioides isolate ASL601 matK-psbA intergenic spacer, partial sequence; chloroplast
gi|570551525|gb|KF263695.1|

Nucleotide
Anemone reflexa isolate ZL-20140406_167 MatK gene, partial cds; chloroplast
Anemone reflexa isolate ZL-20140406_167 MatK gene, partial cds; chloroplast
gi|1706881583|gb|MK341979.1|

Nucleotide
DC138055 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone rst18j...
DC138055 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone rst18j10 3', mRNA sequence
gi|119040317|gnl|dbEST|43315281|dbj 8055.1|

Nucleotide
DC193466 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st116a...
DC193466 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st116a15 5', mRNA sequence
gi|119125342|gnl|dbEST|43390296|dbj 3466.1|

Nucleotide
vasopressin,Lys
vasopressin,Lys
gi|229092|prf||530011A

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000321738	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Dec 8, 2022)	germline	clinical testing	Citation Link,
SCV002024862	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 14, 2021)	germline	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

SCV000321738

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Dec 8, 2022)

germline

clinical testing

Citation Link,

SCV002024862

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 14, 2021)

germline

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	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	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 GeneDx, SCV000321738.8

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

Description

Published functional studies demonstrate that R209H knock-in mice display similar phenotype to patients harboring this variant and respond to risperidone, an approved pharmacological agent (Larrivee et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31907305, 26060304, 27625011, 27068059, 30682224, 33298085, 33084218, 33098801, 33258288, 28688840, 28357411, 27864847, 25966631, 28747448, 30838255, 33619735)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002024862.3

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine