NM_005097.4(LGI1):c.136T>C (p.Cys46Arg) AND Epilepsy, familial temporal lobe, 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 1, 2003
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000005766.12

Allele description [Variation Report for NM_005097.4(LGI1):c.136T>C (p.Cys46Arg)]

NM_005097.4(LGI1):c.136T>C (p.Cys46Arg)

Gene:

LGI1:leucine rich glioma inactivated 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.33

Genomic location:

Preferred name:

NM_005097.4(LGI1):c.136T>C (p.Cys46Arg)

HGVS:

NC_000010.11:g.93758280T>C
NG_011832.1:g.5472T>C
NM_001308275.2:c.136T>C
NM_001308276.2:c.136T>C
NM_005097.4:c.136T>CMANE SELECT
NP_001295204.1:p.Cys46Arg
NP_001295205.1:p.Cys46Arg
NP_005088.1:p.Cys46Arg
NC_000010.10:g.95518037T>C
NM_005097.2:c.136T>C
NR_131777.2:n.345T>C
O95970:p.Cys46Arg

Protein change:

C46R; CYS46ARG

Links:

UniProtKB: O95970#VAR_015772; OMIM: 604619.0004; dbSNP: rs104894166

NCBI 1000 Genomes Browser:

rs104894166

Molecular consequence:

NM_001308275.2:c.136T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001308276.2:c.136T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_005097.4:c.136T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_131777.2:n.345T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Epilepsy, familial temporal lobe, 1
Identifiers:: MONDO: MONDO:0700090; MedGen: C4551957; Orphanet: 101046; OMIM: 600512

Recent activity

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lysophospholipid acyltransferase 1 [Triplophysa rosa]
lysophospholipid acyltransferase 1 [Triplophysa rosa]
gi|2516265220|ref|XP_057196533.1|

Protein
NADH dehydrogenase subunit J [Paraburkholderia xenovorans LB400]
NADH dehydrogenase subunit J [Paraburkholderia xenovorans LB400]
gi|91686575|gnl|jgi|Bxe_A3205|gb|AB 5.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025948	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2003)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 12205652, 12601709
SCV000245371	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 12205652, 12601709

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025948

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2003)

germline

literature only

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

SCV000245371

GeneReviews

no classification provided

not provided

germline

literature only

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	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures.

Gu W, Brodtkorb E, Steinlein OK.

Ann Neurol. 2002 Sep;52(3):364-7.

PubMed [citation]

PMID:: 12205652

Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism.

Pizzuti A, Flex E, Di Bonaventura C, Dottorini T, Egeo G, Manfredi M, Dallapiccola B, Giallonardo AT.

Ann Neurol. 2003 Mar;53(3):396-9. Erratum in: Ann Neurol. 2003 Jul;54(1):137.

PubMed [citation]

PMID:: 12601709

Details of each submission

From OMIM, SCV000025948.2

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

Description

In a large Norwegian family with autosomal dominant lateral temporal lobe epilepsy (600512) characterized by aphasic seizures, Gu et al. (2002) identified a cys46-to-arg substitution (C46R) in a conserved extracellular cysteine cluster region of the LGI1 gene. The authors noted that the conserved cysteine clusters likely form disulfide bonds important in a structural role of the protein. Mutation in the LGI1 gene may alter neuronal migration in the developing nervous system which would result in subtle lesions causing epilepsy.

In an Italian family with autosomal dominant partial epilepsy with auditory features, Pizzuti et al. (2003) identified a heterozygous change in the LGI1 gene, resulting in the C46R substitution.

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

From GeneReviews, SCV000245371.2

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

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

Last Updated: Oct 13, 2024

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