NM_000834.5(GRIN2B):c.163G>A (p.Glu55Lys) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 29, 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:: RCV002402797.2

Allele description [Variation Report for NM_000834.5(GRIN2B):c.163G>A (p.Glu55Lys)]

NM_000834.5(GRIN2B):c.163G>A (p.Glu55Lys)

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.163G>A (p.Glu55Lys)

HGVS:

NC_000012.12:g.13866046C>T
NG_031854.2:g.120967G>A
NM_000834.5:c.163G>AMANE SELECT
NP_000825.2:p.Glu55Lys
NC_000012.11:g.14018980C>T
NC_000012.11:g.14018980C>T
NM_000834.3:c.163G>A

Protein change:

E55K

Links:

dbSNP: rs763469464

NCBI 1000 Genomes Browser:

rs763469464

Molecular consequence:

NM_000834.5:c.163G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002707681	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 29, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002707681

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 29, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002707681.2

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

Description

The p.E55K variant (also known as c.163G>A), located in coding exon 1 of the GRIN2B gene, results from a G to A substitution at nucleotide position 163. The glutamic acid at codon 55 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, lysine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 16, 2025

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