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NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser) AND Developmental and epileptic encephalopathy, 27

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 9, 2022
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:
RCV001781554.10

Allele description [Variation Report for NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser)]

NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser)

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.3076G>A (p.Gly1026Ser)
Other names:
p.G1026S:GGC>AGC
HGVS:
  • NC_000012.12:g.13564162C>T
  • NG_031854.2:g.422851G>A
  • NM_000834.4:c.3076G>A
  • NM_000834.5:c.3076G>AMANE SELECT
  • NP_000825.2:p.Gly1026Ser
  • NC_000012.11:g.13717096C>T
  • NM_000834.3:c.3076G>A
  • NM_000834.5:c.3076G>A
Protein change:
G1026S
Links:
dbSNP: rs201963596
NCBI 1000 Genomes Browser:
rs201963596
Molecular consequence:
  • NM_000834.5:c.3076G>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002025703New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Likely benign
(Jan 9, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002025703.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024