NM_000834.5(GRIN2B):c.1372A>T (p.Lys458Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 9, 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:: RCV000422130.1

Allele description [Variation Report for NM_000834.5(GRIN2B):c.1372A>T (p.Lys458Ter)]

NM_000834.5(GRIN2B):c.1372A>T (p.Lys458Ter)

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.1372A>T (p.Lys458Ter)

HGVS:

NC_000012.12:g.13615621T>A
NG_031854.2:g.371392A>T
NM_000834.5:c.1372A>TMANE SELECT
NP_000825.2:p.Lys458Ter
NC_000012.11:g.13768555T>A
NM_000834.3:c.1372A>T

Protein change:

K458*

Links:

dbSNP: rs1057524392

NCBI 1000 Genomes Browser:

rs1057524392

Molecular consequence:

NM_000834.5:c.1372A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000535427	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jan 9, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000535427

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jan 9, 2017)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV000535427.3

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

Description

The K458X nonsense variant in the GRIN2B gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Other nonsense and loss-of-function variants have been reported in the Human Gene Mutation Database in association with GRIN2B-related disorders (Stenson et al., 2014).

#	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: Apr 23, 2022

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