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NM_000834.5(GRIN2B):c.2639G>A (p.Arg880His) AND Developmental and epileptic encephalopathy, 27

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 31, 2020
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:
RCV004799490.1

Allele description [Variation Report for NM_000834.5(GRIN2B):c.2639G>A (p.Arg880His)]

NM_000834.5(GRIN2B):c.2639G>A (p.Arg880His)

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.2639G>A (p.Arg880His)
HGVS:
  • NC_000012.12:g.13564599C>T
  • NG_031854.2:g.422414G>A
  • NM_000834.5:c.2639G>AMANE SELECT
  • NP_000825.2:p.Arg880His
  • NC_000012.11:g.13717533C>T
  • NM_000834.3:c.2639G>A
Protein change:
R880H
Links:
dbSNP: rs904771425
NCBI 1000 Genomes Browser:
rs904771425
Molecular consequence:
  • NM_000834.5:c.2639G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001441360New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Jan 31, 2020) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001441360.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.2639G>A, p.Arg880His missense variant in the GRIN2B gene has not been reported in the available literature. The variant is absentin the gnomAD database, indicating this is a rare allele. In silico tools predict conflicting evidence of pathogenicity. Based on the available evidence,the c.2639G>A, p.Arg880His variant in the GRIN2B gene is classified as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: May 16, 2025