NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys) AND Developmental delay

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 3, 2021
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:: RCV001580372.2

Allele description [Variation Report for NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys)]

NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys)

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.736G>A (p.Glu246Lys)

HGVS:

NC_000016.10:g.56351396G>A
NG_042800.1:g.165058G>A
NM_020988.3:c.736G>AMANE SELECT
NP_066268.1:p.Glu246Lys
NC_000016.9:g.56385308G>A
NM_020988.2:c.736G>A
P09471:p.Glu246Lys

Protein change:

E246K; GLU246LYS

Links:

UniProtKB: P09471#VAR_077339; OMIM: 139311.0007; dbSNP: rs797044951

NCBI 1000 Genomes Browser:

rs797044951

Molecular consequence:

NM_020988.3:c.736G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Developmental delay
Identifiers:: MedGen: C0424605

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001486219	Pediatric Department, Peking University First Hospital	no assertion criteria provided	Pathogenic (Feb 3, 2021)	de novo	clinical testing	PubMed (4) [See all records that cite these PMIDs] 25966631, 33298085, 27068059, 28628939

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001486219

Pediatric Department, Peking University First Hospital

no assertion criteria provided

Pathogenic
(Feb 3, 2021)

de novo

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N.

Eur J Hum Genet. 2016 Jan;24(1):129-34. doi: 10.1038/ejhg.2015.92. Epub 2015 May 13.

PubMed [citation]

PMID:: 25966631
PMCID:: PMC4795232

Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis.

Kim SY, Shim Y, Ko YJ, Park S, Jang SS, Lim BC, Kim KJ, Chae JH.

Orphanet J Rare Dis. 2020 Dec 9;15(1):343. doi: 10.1186/s13023-020-01594-3.

PubMed [citation]

PMID:: 33298085
PMCID:: PMC7724837

See all PubMed Citations (4)

Details of each submission

From Pediatric Department, Peking University First Hospital, SCV001486219.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

Last Updated: Sep 29, 2024

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