NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg) AND Early infantile epileptic encephalopathy 17

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000824830.1

Allele description [Variation Report for NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg)]

NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg)

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.118G>A (p.Gly40Arg)
HGVS:
  • NC_000016.10:g.56192353G>A
  • NG_042800.1:g.6015G>A
  • NM_020988.3:c.118G>AMANE SELECT
  • NM_138736.3:c.118G>A
  • NP_066268.1:p.Gly40Arg
  • NP_620073.2:p.Gly40Arg
  • NC_000016.9:g.56226265G>A
  • NM_020988.2:c.118G>A
Protein change:
G40R
Links:
dbSNP: rs886041715
NCBI 1000 Genomes Browser:
rs886041715
Molecular consequence:
  • NM_020988.3:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138736.3:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Early infantile epileptic encephalopathy 17 (DEE17)
Synonyms:
DEVELOPMENTAL AND 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
SCV000965720Equipe Genetique des Anomalies du Developpement, Université de Bourgognecriteria provided, single submitter
Likely pathogenic
(Jan 1, 2015)
de novoclinical testing

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

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV000965720.1

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

Last Updated: Jan 16, 2021

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