NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 18, 2018
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:: RCV000657944.1

Allele description [Variation Report for NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys)]

NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys)

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.692A>G (p.Tyr231Cys)

HGVS:

NC_000016.10:g.56336829A>G
NG_042800.1:g.150491A>G
NM_020988.3:c.692A>GMANE SELECT
NM_138736.3:c.692A>G
NP_066268.1:p.Tyr231Cys
NP_620073.2:p.Tyr231Cys
NC_000016.9:g.56370741A>G
NM_020988.2:c.692A>G
NM_138736.2:c.692A>G

Protein change:

Y231C

Links:

dbSNP: rs1057518678

NCBI 1000 Genomes Browser:

rs1057518678

Molecular consequence:

NM_020988.3:c.692A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_138736.3:c.692A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000779714	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (May 18, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000779714

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(May 18, 2018)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV000779714.2

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

Description

The Y231C variant in the GNAO1 gene has been reported as a de novo variant in multiple unrelated patients with early infantile epileptic encephalopathy (Talvik et al., 2015; Posey et al., 2017). Functional studies suggest that Y231C results in partial loss of function (Feng et al., 2017). The Y231C variant is not observed in large population cohorts (Lek et al., 2016). The Y231C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.

#	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

Last Updated: Aug 5, 2023

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