NM_021007.2(SCN2A):c.4687C>G (p.Leu1563Val) 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:
RCV000013737.24

Allele description [Variation Report for NM_021007.2(SCN2A):c.4687C>G (p.Leu1563Val)]

NM_021007.2(SCN2A):c.4687C>G (p.Leu1563Val)

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_021007.2(SCN2A):c.4687C>G (p.Leu1563Val)
HGVS:
  • NC_000002.12:g.165386881C>G
  • NG_008143.1:g.152480C>G
  • NM_001040142.1:c.4687C>G
  • NM_021007.2:c.4687C>G
  • NP_001035232.1:p.Leu1563Val
  • NP_066287.2:p.Leu1563Val
  • NC_000002.11:g.166243391C>G
  • Q99250:p.Leu1563Val
Protein change:
L1563V; LEU1563VAL
Links:
UniProtKB: Q99250#VAR_029741; OMIM: 182390.0003; dbSNP: 121917750
NCBI 1000 Genomes Browser:
rs121917750
Molecular consequence:
  • NM_001040142.1:c.4687C>G - 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
SCV000033984OMIMno assertion criteria providedPathogenic
(Sep 14, 2002)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Benign familial neonatal seizures: clinical and electroencephalographic characteristics.

Shevell MI, Sinclair DB, Metrakos K.

Pediatr Neurol. 1986 Sep-Oct;2(5):272-5.

PubMed [citation]
PMID:
3508699

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, SCV000033984.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In an Ashkenazi Jewish family from Canada with benign familial neonatal-infantile seizures (BFIC3; 607745), originally described by Shevell et al. (1986), Heron et al. (2002) identified a 4687C-G transversion in exon 25 of the SCN2A gene, resulting in a leu1563-to-val (L1563V) substitution.

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

Last Updated: Jul 21, 2018