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NM_020988.3(GNAO1):c.836T>A (p.Ile279Asn) AND Early infantile epileptic encephalopathy 17

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 5, 2013
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:
RCV000056405.28

Allele description

NM_020988.3(GNAO1):c.836T>A (p.Ile279Asn)

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.836T>A (p.Ile279Asn)
HGVS:
  • NC_000016.10:g.56351496T>A
  • NG_042800.1:g.165158T>A
  • NM_020988.3:c.836T>AMANE SELECT
  • NP_066268.1:p.Ile279Asn
  • NC_000016.9:g.56385408T>A
  • P09471:p.Ile279Asn
Protein change:
I279N; ILE279ASN
Links:
UniProtKB: P09471#VAR_070867; OMIM: 139311.0001; dbSNP: rs587777054
NCBI 1000 Genomes Browser:
rs587777054
Molecular consequence:
  • NM_020988.3:c.836T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Early infantile epileptic encephalopathy 17 (EIEE17)
Identifiers:
MONDO: MONDO:0014199; MedGen: C3809606; Orphanet: 1934; OMIM: 615473

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000087514OMIM
no assertion criteria provided
Pathogenic
(Sep 5, 2013) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, Terashima H, Osaka H, Nakamura S, Tohyama J, Kumada T, Furukawa T, Iwata S, Shiihara T, Kubota M, Miyatake S, Koshimizu E, Nishiyama K, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, et al.

Am J Hum Genet. 2013 Sep 5;93(3):496-505. doi: 10.1016/j.ajhg.2013.07.014. Epub 2013 Aug 29.

PubMed [citation]
PMID:
23993195
PMCID:
PMC3769919

Details of each submission

From OMIM, SCV000087514.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 13-year-old girl with early infantile epileptic encephalopathy-17 (EIEE17; 615473), Nakamura et al. (2013) identified a de novo heterozygous c.836T-A transversion in the GNAO1 gene, resulting in an ile279-to-asn (I279N) substitution. The mutation specifically affected GNAO1 transcript variant 1. The mutation was found by whole-exome sequencing and was not found in the NHLBI Exome Sequencing Project database or in 408 in-house control exomes. In vitro functional expression studies in N2A cells showed that the mutant protein had some abnormal cytoplasmic localization.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 18, 2020