NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) AND History of neurodevelopmental disorder

Clinical significance:Uncertain significance (Last evaluated: Oct 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000716783.1

Allele description [Variation Report for NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)]

NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)

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.547T>A (p.Phe183Ile)
HGVS:
  • NC_000016.10:g.9938419A>T
  • NG_011812.1:g.249336T>A
  • NG_011812.2:g.249336T>A
  • NM_000833.5:c.547T>A
  • NM_001134407.3:c.547T>AMANE SELECT
  • NM_001134408.2:c.547T>A
  • NP_000824.1:p.Phe183Ile
  • NP_001127879.1:p.Phe183Ile
  • NP_001127880.1:p.Phe183Ile
  • NC_000016.9:g.10032276A>T
  • NM_000833.3:c.547T>A
  • NM_000833.4:c.547T>A
  • Q12879:p.Phe183Ile
Protein change:
F183I
Links:
UniProtKB: Q12879#VAR_067726; dbSNP: rs587780353
NCBI 1000 Genomes Browser:
rs587780353
Molecular consequence:
  • NM_000833.5:c.547T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134407.3:c.547T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134408.2:c.547T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000847626Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Oct 27, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, et al.

Nat Genet. 2013 Sep;45(9):1067-72. doi: 10.1038/ng.2728. Epub 2013 Aug 11.

PubMed [citation]
PMID:
23933819

Details of each submission

From Ambry Genetics, SCV000847626.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.F183I variant (also known as c.547T>A), located in coding exon 2 of the GRIN2A gene, results from a T to A substitution at nucleotide position 547. The phenylalanine at codon 183 is replaced by isoleucine, an amino acid with highly similar properties. In one study, this variant was detected in an individual with benign epilepsy with centrotemporal spikes (rolandic epilepsy). The variant was not present in the patient's asymptomatic father (mother's variant status unknown) (Lemke JR et al. Nat. Genet., 2013 Sep;45:1067-72). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

Support Center