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

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:
RCV001580371.1

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)

Name:
Developmental and epileptic encephalopathy, 17 (DEE17)
Synonyms:
Early infantile epileptic encephalopathy 17
Identifiers:
MONDO: MONDO:0014199; MedGen: C3809606; Orphanet: 1934; OMIM: 615473
Name:
Neurodevelopmental disorder with involuntary movements (NEDIM)
Identifiers:
MONDO: MONDO:0060491; MedGen: C4479569; OMIM: 617493

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001486217Pediatric Department, Peking University First Hospital
no assertion criteria provided
Pathogenic
(Feb 3, 2021) 		de novoclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.

Marcé-Grau A, Dalton J, López-Pisón J, García-Jiménez MC, Monge-Galindo L, Cuenca-León E, Giraldo J, Macaya A.

Orphanet J Rare Dis. 2016 Apr 12;11:38. doi: 10.1186/s13023-016-0416-0.

PubMed [citation]
PMID:
27072799
PMCID:
PMC4830060

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA; Undiagnosed Diseases Network., Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, et al.

Epilepsia. 2019 Mar;60(3):406-418. doi: 10.1111/epi.14653. Epub 2019 Jan 25.

PubMed [citation]
PMID:
30682224
PMCID:
PMC6452443
See all PubMed Citations (3)

Details of each submission

From Pediatric Department, Peking University First Hospital, SCV001486217.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023