U.S. flag

An official website of the United States government

NM_001134407.3(GRIN2A):c.2054T>G (p.Val685Gly) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 8, 2018
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:
RCV000187641.1

Allele description [Variation Report for NM_001134407.3(GRIN2A):c.2054T>G (p.Val685Gly)]

NM_001134407.3(GRIN2A):c.2054T>G (p.Val685Gly)

Gene:
GRIN2A:glutamate ionotropic receptor NMDA type subunit 2A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.2
Genomic location:
Preferred name:
NM_001134407.3(GRIN2A):c.2054T>G (p.Val685Gly)
Other names:
p.V685G:GTG>GGG
HGVS:
  • NC_000016.10:g.9822378A>C
  • NG_011812.1:g.365377T>G
  • NG_011812.2:g.365377T>G
  • NM_000833.5:c.2054T>G
  • NM_001134407.3:c.2054T>GMANE SELECT
  • NM_001134408.2:c.2054T>G
  • NP_000824.1:p.Val685Gly
  • NP_001127879.1:p.Val685Gly
  • NP_001127880.1:p.Val685Gly
  • NC_000016.9:g.9916235A>C
  • NM_000833.3:c.2054T>G
Protein change:
V685G
Links:
dbSNP: rs796052548
NCBI 1000 Genomes Browser:
rs796052548
Molecular consequence:
  • NM_000833.5:c.2054T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134407.3:c.2054T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134408.2:c.2054T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000241238GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 8, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000241238.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The V685G variant in the GRIN2A gene has been reported previously in an individual with severe intractable epilepsy and global developmental delay (Swanger et al., 2016). The V685G variant is not observed in large population cohorts (Lek et al., 2016). The V685G variant is a conservative amino acid substitution in the agonist binding domain. Functional studies demonstrate that the V685G variant results in loss of normal protein function (Swanger et al., 2016). We interpret V685G as a pathogenic variant.

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

Last Updated: Apr 23, 2022