NM_001134407.3(GRIN2A):c.2434C>A (p.Leu812Met) 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:: RCV001785240.1

Allele description [Variation Report for NM_001134407.3(GRIN2A):c.2434C>A (p.Leu812Met)]

NM_001134407.3(GRIN2A):c.2434C>A (p.Leu812Met)

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.2434C>A (p.Leu812Met)

HGVS:

NC_000016.10:g.9769012G>T
NG_011812.2:g.418743C>A
NM_000833.5:c.2434C>A
NM_001134407.3:c.2434C>AMANE SELECT
NM_001134408.2:c.2434C>A
NP_000824.1:p.Leu812Met
NP_001127879.1:p.Leu812Met
NP_001127880.1:p.Leu812Met
NC_000016.9:g.9862869G>T
NM_000833.3:c.2434C>A

Protein change:

L812M

Links:

dbSNP: rs752241086

NCBI 1000 Genomes Browser:

rs752241086

Molecular consequence:

NM_000833.5:c.2434C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001134407.3:c.2434C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001134408.2:c.2434C>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

gain_of_function_variant [Sequence Ontology: SO:0002053]

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

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PREDICTED: Homo sapiens MAM domain containing glycosylphosphatidylinositol ancho...
PREDICTED: Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), transcript variant X4, misc_RNA
gi|2217361021|ref|XR_926141.3|

Nucleotide
Pseudomonas seleniipraecipitans strain IS2-14 16S ribosomal RNA gene, partial se...
Pseudomonas seleniipraecipitans strain IS2-14 16S ribosomal RNA gene, partial sequence
gi|1219685970|gb|MF523629.1|

Nucleotide
Mybpc3 myosin binding protein C3 [Rattus norvegicus]
Mybpc3 myosin binding protein C3 [Rattus norvegicus]
Gene ID:295929

Gene
NIH_XGC_tropBrn3
NIH_XGC_tropBrn3

biosample
BioSample links for Nucleotide (Select 58492849) (1)
BioSample

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002026154	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 1, 2019)	de novo	research	PubMed (2) [See all records that cite these PMIDs] 30544257, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002026154

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 1, 2019)

de novo

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

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, SCV002026154.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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