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NM_001165963.4(SCN1A):c.5054C>A (p.Ala1685Asp) AND Severe myoclonic epilepsy in infancy

Germline classification:
not provided (2 submissions)
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:
RCV000059527.2

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5054C>A (p.Ala1685Asp)]

NM_001165963.4(SCN1A):c.5054C>A (p.Ala1685Asp)

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.5054C>A (p.Ala1685Asp)
HGVS:
  • NC_000002.12:g.165992221G>T
  • NG_011906.1:g.86419C>A
  • NM_001165963.4:c.5054C>AMANE SELECT
  • NM_001165964.3:c.4970C>A
  • NM_001202435.3:c.5054C>A
  • NM_001353948.2:c.5054C>A
  • NM_001353949.2:c.5021C>A
  • NM_001353950.2:c.5021C>A
  • NM_001353951.2:c.5021C>A
  • NM_001353952.2:c.5021C>A
  • NM_001353954.2:c.5018C>A
  • NM_001353955.2:c.5018C>A
  • NM_001353957.2:c.4970C>A
  • NM_001353958.2:c.4970C>A
  • NM_001353960.2:c.4967C>A
  • NM_001353961.2:c.2612C>A
  • NM_006920.6:c.5021C>A
  • NP_001159435.1:p.Ala1685Asp
  • NP_001159436.1:p.Ala1657Asp
  • NP_001189364.1:p.Ala1685Asp
  • NP_001340877.1:p.Ala1685Asp
  • NP_001340878.1:p.Ala1674Asp
  • NP_001340879.1:p.Ala1674Asp
  • NP_001340880.1:p.Ala1674Asp
  • NP_001340881.1:p.Ala1674Asp
  • NP_001340883.1:p.Ala1673Asp
  • NP_001340884.1:p.Ala1673Asp
  • NP_001340886.1:p.Ala1657Asp
  • NP_001340887.1:p.Ala1657Asp
  • NP_001340889.1:p.Ala1656Asp
  • NP_001340890.1:p.Ala871Asp
  • NP_008851.3:p.Ala1674Asp
  • LRG_8t1:c.5021C>A
  • LRG_8:g.86419C>A
  • NC_000002.11:g.166848731G>T
  • NM_001165963.1:c.5054C>A
  • NM_006920.4:c.5021C>A
  • NR_148667.2:n.5471C>A
Protein change:
A1656D
Links:
UniProtKB/Swiss-Prot: VAR_029714; dbSNP: rs121918744
NCBI 1000 Genomes Browser:
rs121918744
Molecular consequence:
  • NM_001165963.4:c.5054C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.4970C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.5054C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.5054C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.5018C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.4970C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.4970C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.4967C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353961.2:c.2612C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.5021C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.5471C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
  • Moderate decrease in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0086]
  • Moderate hyperpolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0030]
  • Overall loss-of-function [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0141]
  • Severe hyperpolarizing shift of voltage dependence of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0069]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000091058UniProtKB/Swiss-Prot
no classification provided
not providedgermlinenot provided

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

SCV004809246Channelopathy-Associated Epilepsy Research Center
no classification provided
not providednot applicableliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providedliterature only
not providednot applicablenot applicablenot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, Hara K, Morikawa T, Yagi K, Yamakawa K, Inoue Y.

Brain. 2003 Mar;126(Pt 3):531-46.

PubMed [citation]
PMID:
12566275

Different degrees of loss of function between GEFS+ and SMEI Nav 1.1 missense mutants at the same residue induced by rescuable folding defects.

Sugiura Y, Ogiwara I, Hoshi A, Yamakawa K, Ugawa Y.

Epilepsia. 2012 Jun;53(6):e111-4. doi: 10.1111/j.1528-1167.2012.03467.x. Epub 2012 Apr 23.

PubMed [citation]
PMID:
22525008

Details of each submission

From UniProtKB/Swiss-Prot, SCV000091058.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

From Channelopathy-Associated Epilepsy Research Center, SCV004809246.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024