NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter) AND Severe myoclonic epilepsy in infancy

Clinical significance:Pathogenic (Last evaluated: Dec 20, 2014)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000180864.2

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)]

NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)

Genes:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
LOC102724058:uncharacterized LOC102724058 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)
Other names:
p.R1886*:CGA>TGA
HGVS:
  • NC_000002.12:g.165991619G>A
  • NG_011906.1:g.87021C>T
  • NM_001165963.4:c.5656C>TMANE SELECT
  • NM_001165964.3:c.5572C>T
  • NM_001202435.3:c.5656C>T
  • NM_001353948.2:c.5656C>T
  • NM_001353949.2:c.5623C>T
  • NM_001353950.2:c.5623C>T
  • NM_001353951.2:c.5623C>T
  • NM_001353952.2:c.5623C>T
  • NM_001353954.2:c.5620C>T
  • NM_001353955.2:c.5620C>T
  • NM_001353957.2:c.5572C>T
  • NM_001353958.2:c.5572C>T
  • NM_001353960.2:c.5569C>T
  • NM_001353961.2:c.3214C>T
  • NM_006920.6:c.5623C>T
  • NP_001159435.1:p.Arg1886Ter
  • NP_001159436.1:p.Arg1858Ter
  • NP_001189364.1:p.Arg1886Ter
  • NP_001340877.1:p.Arg1886Ter
  • NP_001340878.1:p.Arg1875Ter
  • NP_001340879.1:p.Arg1875Ter
  • NP_001340880.1:p.Arg1875Ter
  • NP_001340881.1:p.Arg1875Ter
  • NP_001340883.1:p.Arg1874Ter
  • NP_001340884.1:p.Arg1874Ter
  • NP_001340886.1:p.Arg1858Ter
  • NP_001340887.1:p.Arg1858Ter
  • NP_001340889.1:p.Arg1857Ter
  • NP_001340890.1:p.Arg1072Ter
  • NP_008851.3:p.Arg1875Ter
  • LRG_8:g.87021C>T
  • NC_000002.11:g.166848129G>A
  • NM_001165963.1:c.5656C>T
  • NR_148667.2:n.6073C>T
  • p.Arg1886*
  • AB093548.1:c.5656C>T;p.Arg1886*
Protein change:
R1072*
Links:
dbSNP: rs779614747
NCBI 1000 Genomes Browser:
rs779614747
Molecular consequence:
  • NR_148667.2:n.6073C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001165963.4:c.5656C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001165964.3:c.5572C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001202435.3:c.5656C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353948.2:c.5656C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353949.2:c.5623C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353950.2:c.5623C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353951.2:c.5623C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353952.2:c.5623C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353954.2:c.5620C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353955.2:c.5620C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353957.2:c.5572C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353958.2:c.5572C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353960.2:c.5569C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353961.2:c.3214C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006920.6:c.5623C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Severe myoclonic epilepsy in infancy (DRVT)
Synonyms:
Epilepsy, Myoclonic, Infantile, Severe; Dravet syndrome; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
Identifiers:
MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000221829Center for Bioinformatics, Peking University - University Clinical Cooperation “985 Project” PKU-2014-1-1

See additional submitters

criteria provided, single submitter
Pathogenic
(Dec 20, 2014)
de novoresearch

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

Citation Link,

SCV000255834Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(May 30, 2014)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Description

Dravet syndrome (DS) probands were recruited from the outpatient and inpatient child neurology units of Peking University First Hospital from 2005 till present. The study was approved by the Ethics Committee of Peking University First Hospital and the Institutional Review Board at Peking University. Participants or their parents provided written informed consent before enrollment. We collected a total of 267 mutations from 255 families with probands diagnosed with DS in China. All probands fulfilled the clinical diagnostic criteria.

SCV000221829

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
Chinesede novoyes2not providednot providednot providednot providedresearch

Citations

PubMed

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.

Xu X, Yang X, Wu Q, Liu A, Yang X, Ye AY, Huang AY, Li J, Wang M, Yu Z, Wang S, Zhang Z, Wu X, Wei L, Zhang Y.

Hum Mutat. 2015 Sep;36(9):861-72. doi: 10.1002/humu.22819. Epub 2015 Jul 24.

PubMed [citation]
PMID:
26096185
PMCID:
PMC5034833

Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.

Mancardi MM, Striano P, Gennaro E, Madia F, Paravidino R, Scapolan S, Dalla Bernardina B, Bertini E, Bianchi A, Capovilla G, Darra F, Elia M, Freri E, Gobbi G, Granata T, Guerrini R, Pantaleoni C, Parmeggiani A, Romeo A, Santucci M, Vecchi M, Veggiotti P, et al.

Epilepsia. 2006 Oct;47(10):1629-35. Erratum in: Epilepsia. 2007 Feb;48(2):409.

PubMed [citation]
PMID:
17054684
See all PubMed Citations (5)

Details of each submission

From Center for Bioinformatics, Peking University - University Clinical Cooperation “985 Project” PKU-2014-1-1, SCV000221829.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese2not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided2not providednot providednot provided

From Athena Diagnostics Inc, SCV000255834.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 2, 2021

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