U.S. flag

An official website of the United States government

NM_000834.5(GRIN2B):c.1568T>C (p.Val523Ala) AND Neurodevelopmental disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 29, 2021
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:
RCV002277699.1

Allele description [Variation Report for NM_000834.5(GRIN2B):c.1568T>C (p.Val523Ala)]

NM_000834.5(GRIN2B):c.1568T>C (p.Val523Ala)

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.1568T>C (p.Val523Ala)
HGVS:
  • NC_000012.12:g.13615200A>G
  • NG_031854.2:g.371813T>C
  • NM_000834.5:c.1568T>CMANE SELECT
  • NP_000825.2:p.Val523Ala
  • NC_000012.11:g.13768134A>G
Protein change:
V523A
Links:
dbSNP: rs2136479447
NCBI 1000 Genomes Browser:
rs2136479447
Molecular consequence:
  • NM_000834.5:c.1568T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neurodevelopmental disorder
Identifiers:
MONDO: MONDO:0700092; MeSH: D065886; MedGen: C1535926

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002564523Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Nov 29, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes, SCV002564523.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023