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

Recent activity

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RECQL RecQ like helicase [Homo sapiens]
RECQL RecQ like helicase [Homo sapiens]
Gene ID:5965

Gene
Gene Links for GEO Profiles (Select 105695541) (1)
Gene
Profile neighbors for GEO Profiles (Select 105701043) (124)
GEO Profiles
Sousa chinensis isolate MY-2018, whole genome shotgun sequencing project
Sousa chinensis isolate MY-2018, whole genome shotgun sequencing project
gi|1566158765|gb|QWLN00000000.2|QWL 0000

Nucleotide
Homo sapiens NDRG family member 2 (NDRG2), transcript variant 5, mRNA
Homo sapiens NDRG family member 2 (NDRG2), transcript variant 5, mRNA
gi|1912938904|ref|NM_201538.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001443362	GenomeConnect - Simons Searchlight	no assertion criteria provided	Likely pathogenic (Feb 17, 2016)	de novo	provider interpretation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001443362

GenomeConnect - Simons Searchlight

no assertion criteria provided

Likely pathogenic
(Feb 17, 2016)

de novo

provider interpretation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	provider interpretation

Details of each submission

From GenomeConnect - Simons Searchlight, SCV001443362.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	provider interpretation	not 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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