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NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 20, 2016
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:
RCV000413937.1

Allele description [Variation Report for NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly)]

NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly)

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.2138T>G (p.Val713Gly)
HGVS:
  • NC_000016.10:g.9822294A>C
  • NG_011812.2:g.365461T>G
  • NM_000833.5:c.2138T>G
  • NM_001134407.3:c.2138T>GMANE SELECT
  • NM_001134408.2:c.2138T>G
  • NP_000824.1:p.Val713Gly
  • NP_001127879.1:p.Val713Gly
  • NP_001127880.1:p.Val713Gly
  • NC_000016.9:g.9916151A>C
  • NG_011812.1:g.365461T>G
  • NM_000833.3:c.2138T>G
Protein change:
V713G
Links:
dbSNP: rs1057518070
NCBI 1000 Genomes Browser:
rs1057518070
Molecular consequence:
  • NM_000833.5:c.2138T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134407.3:c.2138T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134408.2:c.2138T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000491447GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Jan 20, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000491447.1

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

Description

The V713G variant in the GRIN2A gene has not been reported previously as a pathogenic variant, noras a benign variant, to our knowledge. The V713G variant was not observed in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. The V713G variant is aconservative amino acid substitution, which is not likely to impact secondary protein structure asthese residues share similar properties. This substitution occurs at a position that is conserved acrossspecies. In silico analysis predicts this variant is probably damaging to the protein structure/function.Missense variants in nearby residues (E714K, A716T) have been reported in the Human GeneMutation Database in association with epilepsy (Stenson et al., 2014), supporting the functionalimportance of this region of the protein. The V713G variant is a strong candidate for a pathogenicvariant, however the possibility it may be a rare benign variant cannot be excluded.

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

Last Updated: Sep 29, 2024