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NM_020988.3(GNAO1):c.680C>T (p.Ala227Val) AND Developmental and epileptic encephalopathy, 17

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Jun 21, 2016
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:
RCV000193275.8

Allele description [Variation Report for NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)]

NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)

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.680C>T (p.Ala227Val)
HGVS:
  • NC_000016.10:g.56336817C>T
  • NG_042800.1:g.150479C>T
  • NM_020988.3:c.680C>TMANE SELECT
  • NM_138736.3:c.680C>T
  • NP_066268.1:p.Ala227Val
  • NP_620073.2:p.Ala227Val
  • NC_000016.9:g.56370729C>T
  • NM_020988.1:c.680C>T
  • NM_020988.2:c.680C>T
  • P09471:p.Ala227Val
Protein change:
A227V
Links:
UniProtKB: P09471#VAR_077338
Molecular consequence:
  • NM_020988.3:c.680C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138736.3:c.680C>T - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000247487Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(May 22, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001164114Génétique des Maladies du Développement, Hospices Civils de Lyon
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jun 21, 2016)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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

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 Genetic Services Laboratory, University of Chicago, SCV000247487.1

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

From Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV001164114.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024