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NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 4, 2015
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:
RCV000417104.1

Allele description [Variation Report for NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile)]

NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile)

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.2960G>T (p.Ser987Ile)
Other names:
p.S987I:AGT>ATT
HGVS:
  • NC_000002.12:g.165354232G>T
  • NG_008143.1:g.119831G>T
  • NM_001040142.2:c.2960G>TMANE SELECT
  • NM_001040143.2:c.2960G>T
  • NM_001371246.1:c.2960G>T
  • NM_001371247.1:c.2960G>T
  • NM_021007.3:c.2960G>T
  • NP_001035232.1:p.Ser987Ile
  • NP_001035233.1:p.Ser987Ile
  • NP_001358175.1:p.Ser987Ile
  • NP_001358176.1:p.Ser987Ile
  • NP_066287.2:p.Ser987Ile
  • NP_066287.2:p.Ser987Ile
  • NC_000002.11:g.166210742G>T
  • NM_001040142.1:c.2960G>T
  • NM_021007.2:c.2960G>T
  • p.(Ser987Ile)
Protein change:
S987I
Links:
dbSNP: rs796053124
NCBI 1000 Genomes Browser:
rs796053124
Molecular consequence:
  • NM_001040142.2:c.2960G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040143.2:c.2960G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371246.1:c.2960G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371247.1:c.2960G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021007.3:c.2960G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary episodic ataxia
Synonyms:
Episodic ataxia; EA syndrome; Episodic Ataxia syndrome
Identifiers:
MONDO: MONDO:0016227; MedGen: C1720189; Orphanet: 211062; OMIM: PS160120; Human Phenotype Ontology: HP:0002131
Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Vertigo
Identifiers:
MedGen: C0042571; Human Phenotype Ontology: HP:0002321

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000494649Center of Genomic medicine, Geneva, University Hospital of Geneva
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 4, 2015) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.

Liao Y, Anttonen AK, Liukkonen E, Gaily E, Maljevic S, Schubert S, Bellan-Koch A, Petrou S, Ahonen VE, Lerche H, Lehesjoki AE.

Neurology. 2010 Oct 19;75(16):1454-8. doi: 10.1212/WNL.0b013e3181f8812e.

PubMed [citation]
PMID:
20956790

Details of each submission

From Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000494649.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Patient with infantile epilepsy, vertigo and episodic ataxia. Missense SCN2A variants have been reported to cause infantile epilepsy and one case of episodic ataxia caused by a missense variant in SCN2A. The observed variant has never been reported yet.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023