NM_001165963.4(SCN1A):c.4002+2451G>C AND Severe myoclonic epilepsy in infancy

Clinical significance:Pathogenic (Last evaluated: Mar 29, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000209951.2

Allele description [Variation Report for NM_001165963.4(SCN1A):c.4002+2451G>C]

NM_001165963.4(SCN1A):c.4002+2451G>C

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.4002+2451G>C
HGVS:
  • NC_000002.12:g.166007268C>G
  • NG_011906.1:g.71372G>C
  • NM_001165963.4:c.4002+2451G>CMANE SELECT
  • NM_001165964.3:c.3918+2451G>C
  • NM_001202435.3:c.4002+2451G>C
  • NM_001353948.2:c.4002+2451G>C
  • NM_001353949.2:c.3969+2451G>C
  • NM_001353950.2:c.3969+2451G>C
  • NM_001353951.2:c.3969+2451G>C
  • NM_001353952.2:c.3969+2451G>C
  • NM_001353954.2:c.3966+2451G>C
  • NM_001353955.2:c.3966+2451G>C
  • NM_001353957.2:c.3918+2451G>C
  • NM_001353958.2:c.3918+2451G>C
  • NM_001353960.2:c.3915+2451G>C
  • NM_001353961.2:c.1560+2451G>C
  • NM_006920.6:c.3969+2451G>C
  • LRG_8:g.71372G>C
  • NC_000002.11:g.166863778C>G
  • NR_148667.2:n.4381G>C
Links:
dbSNP: rs869312684
NCBI 1000 Genomes Browser:
rs869312684
Molecular consequence:
  • NM_001165963.4:c.4002+2451G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001165964.3:c.3918+2451G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001202435.3:c.4002+2451G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353948.2:c.4002+2451G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353949.2:c.3969+2451G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353950.2:c.3969+2451G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353951.2:c.3969+2451G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353952.2:c.3969+2451G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353954.2:c.3966+2451G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353955.2:c.3966+2451G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353957.2:c.3918+2451G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353958.2:c.3918+2451G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353960.2:c.3915+2451G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353961.2:c.1560+2451G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006920.6:c.3969+2451G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NR_148667.2:n.4381G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000265557HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnologycriteria provided, single submitter
    Pathogenic
    (Mar 29, 2019)
    de novoresearch

    HA_assertions_20161101.pdf

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyes1not providednot provided1not providedresearch

    Details of each submission

    From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology, SCV000265557.4

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedresearchnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1de novoyes1not providednot provided1not providednot providednot provided

    Last Updated: Oct 7, 2021

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