NM_000834.5(GRIN2B):c.803_804del (p.Thr268fs) AND Intellectual disability, autosomal dominant 6

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 4, 2017
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:: RCV000022581.31

Allele description [Variation Report for NM_000834.5(GRIN2B):c.803_804del (p.Thr268fs)]

NM_000834.5(GRIN2B):c.803_804del (p.Thr268fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

12p13.1

Genomic location:

Preferred name:

NM_000834.5(GRIN2B):c.803_804del (p.Thr268fs)

HGVS:

NC_000012.12:g.13753524GT[1]
NG_031854.2:g.233487CA[1]
NM_000834.5:c.803_804delMANE SELECT
NP_000825.2:p.Thr268fs
NC_000012.11:g.13906458GT[1]
NM_000834.3:c.803_804del
NM_000834.3:c.803_804delCA

Protein change:

T268fs

Links:

OMIM: 138252.0002; dbSNP: rs1060499526

NCBI 1000 Genomes Browser:

rs1060499526

Molecular consequence:

NM_000834.5:c.803_804del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Intellectual disability, autosomal dominant 6 (MRD6)
Synonyms:: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES
Identifiers:: MONDO: MONDO:0013509; MedGen: C3151411; OMIM: 613970

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000043870	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2010)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001335388	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 4, 2017)	de novo	clinical testing	PubMed (2) [See all records that cite these PMIDs] 28377535, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000043870

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2010)

germline

literature only

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

SCV001335388

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 4, 2017)

de novo

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, et al.

Nat Genet. 2010 Nov;42(11):1021-6. doi: 10.1038/ng.677. Epub 2010 Oct 3.

PubMed [citation]

PMID:: 20890276

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, et al.

J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4.

PubMed [citation]

PMID:: 28377535
PMCID:: PMC5656050

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000043870.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 13-year-old German girl with moderately impaired intellectual development (MRD6; 613970), Endele et al. (2010) identified a de novo heterozygous 2-bp deletion (803delCA) in exon 4 of the GRIN2B gene, resulting in a frameshift and premature termination. The mutation was not found in 360 control chromosomes.

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

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001335388.1

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

Description

This variant was identified as de novo (maternity and paternity confirmed).

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

Last Updated: Aug 5, 2023

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