NM_001040142.1(SCN2A):c.3988C>T (p.Leu1330Phe) AND Benign familial neonatal-infantile seizures

Clinical significance:Pathogenic (Last evaluated: Sep 14, 2002)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013736.23

Allele description [Variation Report for NM_001040142.1(SCN2A):c.3988C>T (p.Leu1330Phe)]

NM_001040142.1(SCN2A):c.3988C>T (p.Leu1330Phe)

Gene:
SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001040142.1(SCN2A):c.3988C>T (p.Leu1330Phe)
HGVS:
  • NC_000002.12:g.165374700C>T
  • NG_008143.1:g.140299C>T
  • NM_001040142.1:c.3988C>T
  • NP_001035232.1:p.Leu1330Phe
  • NC_000002.11:g.166231210C>T
  • Q99250:p.Leu1330Phe
Protein change:
L1330F; LEU1330PHE
Links:
UniProtKB: Q99250#VAR_029740; OMIM: 182390.0002; dbSNP: 121917749
NCBI 1000 Genomes Browser:
rs121917749
Molecular consequence:
  • NM_001040142.1:c.3988C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Benign familial neonatal-infantile seizures (BFIS3)
Synonyms:
CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3; Seizures, benign familial infantile, 3
Identifiers:
MedGen: C1843140; Orphanet: 140927; Orphanet: 306; OMIM: 607745

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033983OMIMno assertion criteria providedPathogenic
(Sep 14, 2002)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Sodium-channel defects in benign familial neonatal-infantile seizures.

Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A, Shevell M, Mercho S, Seni MH, Guiot MC, Mulley JC, Berkovic SF, Scheffer IE.

Lancet. 2002 Sep 14;360(9336):851-2. Erratum in: Lancet 2002 Nov 9;360(9344):1520.

PubMed [citation]
PMID:
12243921

Details of each submission

From OMIM, SCV000033983.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family with benign familial neonatal-infantile seizures (BFIC3; 607745), Heron et al. (2002) identified a 3988C-T transition in the SCN2A gene, resulting in a leu1330-to-phe (L1330F) substitution. The family was Australian of Irish origin with 7 affected individuals over 4 generations.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 21, 2018