U.S. flag

An official website of the United States government

NM_001134407.3(GRIN2A):c.1782_1783insTT (p.His595fs) AND Landau-Kleffner syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2019
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:
RCV001785258.1

Allele description [Variation Report for NM_001134407.3(GRIN2A):c.1782_1783insTT (p.His595fs)]

NM_001134407.3(GRIN2A):c.1782_1783insTT (p.His595fs)

Gene:
GRIN2A:glutamate ionotropic receptor NMDA type subunit 2A [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
16p13.2
Genomic location:
Preferred name:
NM_001134407.3(GRIN2A):c.1782_1783insTT (p.His595fs)
HGVS:
  • NC_000016.10:g.9829647_9829648insAA
  • NG_011812.2:g.358107_358108insTT
  • NM_000833.5:c.1782_1783insTT
  • NM_001134407.3:c.1782_1783insTTMANE SELECT
  • NM_001134408.2:c.1782_1783insTT
  • NP_000824.1:p.His595fs
  • NP_001127879.1:p.His595fs
  • NP_001127880.1:p.His595fs
  • NC_000016.9:g.9923504_9923505insAA
Protein change:
H595fs
Links:
dbSNP: rs2141313067
NCBI 1000 Genomes Browser:
rs2141313067
Molecular consequence:
  • NM_000833.5:c.1782_1783insTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001134407.3:c.1782_1783insTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001134408.2:c.1782_1783insTT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Landau-Kleffner syndrome (FESD)
Synonyms:
Acquired aphasia with convulsive disorder; Acquired epileptiform aphasia; APHASIA, ACQUIRED, WITH EPILEPSY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009509; MedGen: C0282512; Orphanet: 1945; Orphanet: 725; Orphanet: 98818; OMIM: 245570

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002026186Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 1, 2019) 		unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

GRIN2A-related disorders: genotype and functional consequence predict phenotype.

Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; et al.

Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304.

PubMed [citation]
PMID:
30544257
PMCID:
PMC6308310

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV002026186.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023