NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp) AND Developmental and epileptic encephalopathy, 27

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 22, 2014
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000449489.1

Allele description [Variation Report for NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp)]

NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp)

Gene:

GRIN2B:glutamate ionotropic receptor NMDA type subunit 2B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.1

Genomic location:

Preferred name:

NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp)

HGVS:

NC_000012.12:g.13615170C>T
NG_031854.2:g.371843G>A
NM_000834.5:c.1598G>AMANE SELECT
NP_000825.2:p.Gly533Asp
NC_000012.11:g.13768104C>T
NM_000834.3:c.1598G>A

Protein change:

G533D

Links:

dbSNP: rs1060499659

NCBI 1000 Genomes Browser:

rs1060499659

Molecular consequence:

NM_000834.5:c.1598G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Developmental and epileptic encephalopathy, 27 (DEE27)
Synonyms:: Epileptic encephalopathy, early infantile, 27
Identifiers:: MONDO: MONDO:0014505; MedGen: C4015316; Orphanet: 3451; OMIM: 616139

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000537718	Center of Genomic medicine, Geneva, University Hospital of Geneva	criteria provided, single submitter (MacArthur et al. (Nature 2014))	Likely pathogenic (Sep 22, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000537718

Center of Genomic medicine, Geneva, University Hospital of Geneva

criteria provided, single submitter

(MacArthur et al. (Nature 2014))

Likely pathogenic
(Sep 22, 2014)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Guidelines for investigating causality of sequence variants in human disease.

MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, et al.

Nature. 2014 Apr 24;508(7497):469-76. doi: 10.1038/nature13127.

PubMed [citation]

PMID:: 24759409
PMCID:: PMC4180223

Details of each submission

From Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000537718.1

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

Description

This heterozygous mutation in the GRIN2B gene was identified in a young female patient with epilepsy and intellectual deficiency

#	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

Last Updated: Sep 29, 2024

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