NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) AND Epilepsy, focal, with speech disorder and with or without mental retardation

Clinical significance:Benign/Likely benign (Last evaluated: May 22, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000989528.3

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]

Condition(s)

Name:
Epilepsy, focal, with speech disorder and with or without mental retardation (FESD)
Synonyms:
Landau-Kleffner syndrome; Acquired aphasia with convulsive disorder; Acquired epileptiform aphasia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009509; MedGen: C3806402; Orphanet: 1945; Orphanet: 725; Orphanet: 98818; OMIM: 245570

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001011206Invitaecriteria provided, single submitter
Likely benign
(May 22, 2020)
germlineclinical testing

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

SCV001139948Mendelicscriteria provided, single submitter
Benign
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001011206.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV001139948.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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