NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) AND Seizures

Clinical significance:Pathogenic (Last evaluated: Sep 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000585684.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)]

NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)

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.3637C>T (p.Arg1213Ter)
Other names:
p.R1213*:CGA>TGA
HGVS:
  • NC_000002.12:g.166013812G>A
  • NG_011906.1:g.64828C>T
  • NM_001165963.4:c.3637C>TMANE SELECT
  • NM_001165963.4:c.3637C>T
  • NM_001165964.3:c.3553C>T
  • NM_001202435.3:c.3637C>T
  • NM_001353948.2:c.3637C>T
  • NM_001353949.2:c.3604C>T
  • NM_001353950.2:c.3604C>T
  • NM_001353951.2:c.3604C>T
  • NM_001353952.2:c.3604C>T
  • NM_001353954.2:c.3601C>T
  • NM_001353955.2:c.3601C>T
  • NM_001353957.2:c.3553C>T
  • NM_001353958.2:c.3553C>T
  • NM_001353960.2:c.3550C>T
  • NM_001353961.2:c.1195C>T
  • NM_006920.6:c.3604C>T
  • NP_001159435.1:p.Arg1213Ter
  • NP_001159436.1:p.Arg1185Ter
  • NP_001189364.1:p.Arg1213Ter
  • NP_001340877.1:p.Arg1213Ter
  • NP_001340878.1:p.Arg1202Ter
  • NP_001340879.1:p.Arg1202Ter
  • NP_001340880.1:p.Arg1202Ter
  • NP_001340881.1:p.Arg1202Ter
  • NP_001340883.1:p.Arg1201Ter
  • NP_001340884.1:p.Arg1201Ter
  • NP_001340886.1:p.Arg1185Ter
  • NP_001340887.1:p.Arg1185Ter
  • NP_001340889.1:p.Arg1184Ter
  • NP_001340890.1:p.Arg399Ter
  • NP_008851.3:p.Arg1202Ter
  • LRG_8t1:c.3604C>T
  • LRG_8:g.64828C>T
  • NC_000002.11:g.166870322G>A
  • NM_001165963.1:c.3637C>T
  • NM_006920.4:c.3604C>T
  • NR_148667.2:n.3990C>T
  • p.(Arg1213*)
  • AB093548.1:c.3637C>T;p.Arg1213*
Protein change:
R1184*
Links:
dbSNP: rs794726710
NCBI 1000 Genomes Browser:
rs794726710
Molecular consequence:
  • NR_148667.2:n.3990C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001165963.4:c.3637C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001165964.3:c.3553C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001202435.3:c.3637C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353948.2:c.3637C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353949.2:c.3604C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353950.2:c.3604C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353951.2:c.3604C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353952.2:c.3604C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353954.2:c.3601C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353955.2:c.3601C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353957.2:c.3553C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353958.2:c.3553C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353960.2:c.3550C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353961.2:c.1195C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006920.6:c.3604C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000693448Center of Genomic medicine, Geneva,University Hospital of Genevacriteria provided, single submitter
Pathogenic
(Sep 14, 2017)
de novoclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center of Genomic medicine, Geneva,University Hospital of Geneva, SCV000693448.1

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

Description

This pathogenic mutation in the SCN1A gene was found in a child with epilepsy since the age of 5 months.

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

Last Updated: Oct 8, 2021

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