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NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV003325951.2

Allele description [Variation Report for NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu)]

NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu)

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.4264A>G (p.Lys1422Glu)
Other names:
p.K1422E:AAG>GAG
HGVS:
  • NC_000002.12:g.165377606A>G
  • NG_008143.1:g.143205A>G
  • NM_001040142.2:c.4264A>GMANE SELECT
  • NM_001040143.2:c.4264A>G
  • NM_001371246.1:c.4264A>G
  • NM_001371247.1:c.4264A>G
  • NM_021007.3:c.4264A>G
  • NP_001035232.1:p.Lys1422Glu
  • NP_001035233.1:p.Lys1422Glu
  • NP_001358175.1:p.Lys1422Glu
  • NP_001358176.1:p.Lys1422Glu
  • NP_066287.2:p.Lys1422Glu
  • NP_066287.2:p.Lys1422Glu
  • NC_000002.11:g.166234116A>G
  • NM_021007.2:c.4264A>G
  • Q99250:p.Lys1422Glu
Protein change:
K1422E
Links:
UniProtKB: Q99250#VAR_070008; dbSNP: rs796053137
NCBI 1000 Genomes Browser:
rs796053137
Molecular consequence:
  • NM_001040142.2:c.4264A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040143.2:c.4264A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371246.1:c.4264A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371247.1:c.4264A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021007.3:c.4264A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
  • Increase in slope of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0073]
  • Mild slowing of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0049]
  • Mild-moderate slowing of recovery from fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0056]
  • Moderate decrease in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0086]
  • Normal recovery from slow inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0108]
  • Normal slope of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0036]
  • Normal voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0032]
  • Normal voltage dependence of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0070]

Condition(s)

Name:
Benign familial neonatal-infantile seizures 1
Synonyms:
Seizures, benign familial infantile, 1; Benign familial infantile convulsions syndrome
Identifiers:
MONDO: MONDO:0042499; MedGen: C4551769; Orphanet: 306; OMIM: 601764
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
Name:
Developmental and epileptic encephalopathy, 11 (DEE11)
Synonyms:
Early infantile epileptic encephalopathy 11
Identifiers:
MONDO: MONDO:0013388; MedGen: C3150987; Orphanet: 1934; OMIM: 613721
Name:
SCN2A-related generalized epilepsy with febrile seizures plus
Identifiers:
MedGen: CN120574

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004032178GenomeConnect - Brain Gene Registry
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Brain Gene Registry, SCV004032178.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 08-31-2012 by Lab GeneDx. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024