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NM_001134407.3(GRIN2A):c.3344A>T (p.Asp1115Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 10, 2014
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:
RCV000187657.2

Allele description [Variation Report for NM_001134407.3(GRIN2A):c.3344A>T (p.Asp1115Val)]

NM_001134407.3(GRIN2A):c.3344A>T (p.Asp1115Val)

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.3344A>T (p.Asp1115Val)
Other names:
p.D1115V:GAC>GTC
HGVS:
  • NC_000016.10:g.9764200T>A
  • NG_011812.1:g.423555A>T
  • NG_011812.2:g.423555A>T
  • NM_000833.5:c.3344A>T
  • NM_001134407.3:c.3344A>TMANE SELECT
  • NM_001134408.2:c.3344A>T
  • NP_000824.1:p.Asp1115Val
  • NP_001127879.1:p.Asp1115Val
  • NP_001127880.1:p.Asp1115Val
  • NC_000016.9:g.9858057T>A
  • NM_000833.3:c.3344A>T
Protein change:
D1115V
Links:
dbSNP: rs796052557
NCBI 1000 Genomes Browser:
rs796052557
Molecular consequence:
  • NM_000833.5:c.3344A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134407.3:c.3344A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134408.2:c.3344A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000241254GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 10, 2014) 		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, SCV000241254.11

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

Description

p.Asp1115Val (D1115V) GAC>GTC: c.3344 A>T in exon 14 of the GRIN2A gene (NM_000833.3). The D1115V variant in the GRIN2A gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D1115V variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals but is not conserved in more distantly related species. Other missense mutations in this region of the protein have been reported in association with epilepsy, supporting the functional importance of this region of the protein. In silico analysis predicts this variant is probably damaging to the protein structure/function. The variant is found in EPILEPSY panel(s).

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

Last Updated: Apr 23, 2022