NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val) AND Seizures, benign familial infantile, 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 14, 2002
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:: RCV000013737.25

Allele description [Variation Report for NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val)]

NM_001040142.2(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_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val)

HGVS:

NC_000002.12:g.165386881C>G
NG_008143.1:g.152480C>G
NM_001040142.2:c.4687C>GMANE SELECT
NM_001040143.2:c.4687C>G
NM_001371246.1:c.4687C>G
NM_001371247.1:c.4687C>G
NM_021007.3:c.4687C>G
NP_001035232.1:p.Leu1563Val
NP_001035233.1:p.Leu1563Val
NP_001358175.1:p.Leu1563Val
NP_001358176.1:p.Leu1563Val
NP_066287.2:p.Leu1563Val
NP_066287.2:p.Leu1563Val
NC_000002.11:g.166243391C>G
NM_001040143.1:c.4687C>G
NM_021007.2:c.4687C>G
Q99250:p.Leu1563Val

Protein change:

L1563V; LEU1563VAL

Links:

UniProtKB: Q99250#VAR_029741; OMIM: 182390.0003; dbSNP: rs121917750

NCBI 1000 Genomes Browser:

rs121917750

Molecular consequence:

NM_001040142.2:c.4687C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001040143.2:c.4687C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371246.1:c.4687C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001371247.1:c.4687C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_021007.3:c.4687C>G - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Hyperpolarizing shift of voltage dependence of slow inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0117]
Increase in slope of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0035]
Increase in slope of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0073]
Increase of decay in current amplitude in use dependence [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0134]
Moderate hyperpolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0030]
Normal peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0096]
Normal persistent current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0044]
Overall loss-of-function [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0141]
Severe hyperpolarizing shift of voltage dependence of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0069]
Severe slowing of recovery from fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0057]

Condition(s)

Name:: Seizures, benign familial infantile, 3 (BFIS3)
Synonyms:: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3; Familial neonatal seizures
Identifiers:: MONDO: MONDO:0011904; MedGen: C1843140; Orphanet: 140927; Orphanet: 306; OMIM: 607745

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033984	OMIM	no assertion criteria provided	Pathogenic (Sep 14, 2002)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 3508699, 12243921

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033984

OMIM

no assertion criteria provided

Pathogenic
(Sep 14, 2002)

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	not provided	not provided	not provided	not provided	not provided	not provided	literature 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, SCV000033984.2

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

Description

In an Ashkenazi Jewish family from Canada with benign familial neonatal-infantile seizures (BFIS3; 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.

#	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

Last Updated: Apr 15, 2024

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