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NM_001134407.3(GRIN2A):c.2696G>A (p.Arg899Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 21, 2023
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:
RCV003372728.2

Allele description [Variation Report for NM_001134407.3(GRIN2A):c.2696G>A (p.Arg899Gln)]

NM_001134407.3(GRIN2A):c.2696G>A (p.Arg899Gln)

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.2696G>A (p.Arg899Gln)
HGVS:
  • NC_000016.10:g.9764848C>T
  • NG_011812.2:g.422907G>A
  • NM_000833.5:c.2696G>A
  • NM_001134407.3:c.2696G>AMANE SELECT
  • NM_001134408.2:c.2696G>A
  • NP_000824.1:p.Arg899Gln
  • NP_001127879.1:p.Arg899Gln
  • NP_001127880.1:p.Arg899Gln
  • NC_000016.9:g.9858705C>T
  • NG_011812.1:g.422907G>A
  • NM_000833.3:c.2696G>A
Protein change:
R899Q
Links:
dbSNP: rs759145938
NCBI 1000 Genomes Browser:
rs759145938
Molecular consequence:
  • NM_000833.5:c.2696G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134407.3:c.2696G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134408.2:c.2696G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004093206Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 21, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004093206.2

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

Description

The c.2696G>A (p.R899Q) alteration is located in exon 14 (coding exon 12) of the GRIN2A gene. This alteration results from a G to A substitution at nucleotide position 2696, causing the arginine (R) at amino acid position 899 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024