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NM_000834.5(GRIN2B):c.694T>C (p.Cys232Arg) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 5, 2023
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:
RCV003984904.2

Allele description [Variation Report for NM_000834.5(GRIN2B):c.694T>C (p.Cys232Arg)]

NM_000834.5(GRIN2B):c.694T>C (p.Cys232Arg)

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.694T>C (p.Cys232Arg)
HGVS:
  • NC_000012.12:g.13753633A>G
  • NG_031854.2:g.233380T>C
  • NM_000834.5:c.694T>CMANE SELECT
  • NM_001413992.1:c.694T>C
  • NM_001413993.1:c.694T>C
  • NM_001413994.1:c.694T>C
  • NM_001413995.1:c.694T>C
  • NP_000825.2:p.Cys232Arg
  • NP_001400921.1:p.Cys232Arg
  • NP_001400922.1:p.Cys232Arg
  • NP_001400923.1:p.Cys232Arg
  • NP_001400924.1:p.Cys232Arg
  • NC_000012.11:g.13906567A>G
Protein change:
C232R
Links:
dbSNP: rs2497777758
NCBI 1000 Genomes Browser:
rs2497777758
Molecular consequence:
  • NM_000834.5:c.694T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413992.1:c.694T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413993.1:c.694T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413994.1:c.694T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413995.1:c.694T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
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
SCV004801019MVZ Medizinische Genetik Mainz
criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)		Uncertain significance
(May 5, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV004801019.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

PP3_MOD,PM2_SUP,PP2

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

Last Updated: May 16, 2025