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

Recent activity

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XRCC6P1 X-ray repair cross complementing 6 pseudogene 1 [Homo sapiens]
XRCC6P1 X-ray repair cross complementing 6 pseudogene 1 [Homo sapiens]
Gene ID:387703

Gene
XRCC6P1 AND (alive[prop]) (1)
Gene
CYP24A1 cytochrome P450 family 24 subfamily A member 1 [Microcebus murinus]
CYP24A1 cytochrome P450 family 24 subfamily A member 1 [Microcebus murinus]
Gene ID:105869419

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000247487	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 22, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001164114	Génétique des Maladies du Développement, Hospices Civils de Lyon	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 21, 2016)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25966631, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000247487

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 22, 2015)

germline

clinical testing

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

SCV001164114

Génétique des Maladies du Développement, Hospices Civils de Lyon

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 21, 2016)

unknown

clinical testing

PubMed (2)
[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	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	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

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

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Jun 23, 2024

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