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NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser) AND Complex neurodevelopmental disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 17, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001265248.2

Allele description [Variation Report for NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)]

NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)

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.2065G>A (p.Gly689Ser)
HGVS:
  • NC_000012.12:g.13571910C>T
  • NG_031854.2:g.415103G>A
  • NM_000834.5:c.2065G>AMANE SELECT
  • NP_000825.2:p.Gly689Ser
  • NC_000012.11:g.13724844C>T
  • NM_000834.3:c.2065G>A
Protein change:
G689S
Links:
Molecular consequence:
  • NM_000834.5:c.2065G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Complex neurodevelopmental disorder
Identifiers:
MONDO: MONDO:0100038; MedGen: C5568766

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001443362GenomeConnect - Simons Searchlight
no assertion criteria provided
Likely pathogenic
(Feb 17, 2016) 		de novoprovider interpretation

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From GenomeConnect - Simons Searchlight, SCV001443362.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided

Description

Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-02-17 and interpreted as Likely Pathogenic. Variant was initially reported on 2015-12-21 by GTR ID of laboratory name 283396. The reporting laboratory might also submit to ClinVar.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024