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NM_001040142.2(SCN2A):c.4630A>G (p.Asn1544Asp) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 17, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000189163.2

Allele description [Variation Report for NM_001040142.2(SCN2A):c.4630A>G (p.Asn1544Asp)]

NM_001040142.2(SCN2A):c.4630A>G (p.Asn1544Asp)

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.4630A>G (p.Asn1544Asp)
Other names:
p.N1544D:AAC>GAC
HGVS:
  • NC_000002.12:g.165386824A>G
  • NG_008143.1:g.152423A>G
  • NM_001040142.2:c.4630A>GMANE SELECT
  • NM_001040143.2:c.4630A>G
  • NM_001371246.1:c.4630A>G
  • NM_001371247.1:c.4630A>G
  • NM_021007.3:c.4630A>G
  • NP_001035232.1:p.Asn1544Asp
  • NP_001035233.1:p.Asn1544Asp
  • NP_001358175.1:p.Asn1544Asp
  • NP_001358176.1:p.Asn1544Asp
  • NP_066287.2:p.Asn1544Asp
  • NP_066287.2:p.Asn1544Asp
  • NC_000002.11:g.166243334A>G
  • NM_021007.2:c.4630A>G
Protein change:
N1544D
Links:
dbSNP: rs796053149
NCBI 1000 Genomes Browser:
rs796053149
Molecular consequence:
  • NM_001040142.2:c.4630A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040143.2:c.4630A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371246.1:c.4630A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371247.1:c.4630A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021007.3:c.4630A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000242795GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Jan 17, 2014) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000242795.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Asn1544Asp (AAC>GAC): c.4630 A>G in exon 26 of the SCN2A gene (NM_021007.2). The Asn1544Asp missense change in the SCN2A gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a non-conservative amino acid substitution of an uncharged Asparagine residue with a negatively charged Aspartic acid residue. In silico analysis predicts this variant is probably damaging to the protein structure/function. The variant alters a conserved position in the S1 subunit of the fourth transmembrane domain; however, other missense mutations associated with epilepsy have not been reported in this region of the protein to our knowledge. This variant has been observed de novo without verified parentage. The variant is found in EPILEPSY panel(s).

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

Last Updated: Sep 17, 2022