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NM_005097.4(LGI1):c.124T>G (p.Cys42Gly) AND Epilepsy, familial temporal lobe, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 27, 2015
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:
RCV000193106.1

Allele description

NM_005097.4(LGI1):c.124T>G (p.Cys42Gly)

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.124T>G (p.Cys42Gly)
HGVS:
  • NC_000010.11:g.93758268T>G
  • NG_011832.1:g.5460T>G
  • NM_001308275.2:c.124T>G
  • NM_001308276.2:c.124T>G
  • NM_005097.4:c.124T>GMANE SELECT
  • NP_001295204.1:p.Cys42Gly
  • NP_001295205.1:p.Cys42Gly
  • NP_005088.1:p.Cys42Gly
  • NC_000010.10:g.95518025T>G
  • NM_005097.2:c.124T>G
  • NR_131777.2:n.333T>G
  • O95970:p.Cys42Gly
Protein change:
C42G
Links:
UniProtKB: O95970#VAR_023008; dbSNP: rs797044996
NCBI 1000 Genomes Browser:
rs797044996
Molecular consequence:
  • NM_001308275.2:c.124T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308276.2:c.124T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005097.4:c.124T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_131777.2:n.333T>G - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000245370GeneReviews
no assertion criteria provided
Pathogenic
(Aug 27, 2015) 		germlineliterature only

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

LGI1 mutations in temporal lobe epilepsies.

Berkovic SF, Izzillo P, McMahon JM, Harkin LA, McIntosh AM, Phillips HA, Briellmann RS, Wallace RH, Mazarib A, Neufeld MY, Korczyn AD, Scheffer IE, Mulley JC.

Neurology. 2004 Apr 13;62(7):1115-9.

PubMed [citation]
PMID:
15079010

LGI1 mutations in autosomal dominant partial epilepsy with auditory features.

Ottman R, Winawer MR, Kalachikov S, Barker-Cummings C, Gilliam TC, Pedley TA, Hauser WA.

Neurology. 2004 Apr 13;62(7):1120-6.

PubMed [citation]
PMID:
15079011
PMCID:
PMC1361770

Details of each submission

From GeneReviews, SCV000245370.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 18, 2022