NM_004588.4(SCN2B):c.82C>T (p.Arg28Trp) AND Atrial fibrillation, familial, 14

Clinical significance:Pathogenic (Last evaluated: Jun 1, 2009)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000054539.2

Allele description [Variation Report for NM_004588.4(SCN2B):c.82C>T (p.Arg28Trp)]

NM_004588.4(SCN2B):c.82C>T (p.Arg28Trp)

Gene:
SCN2B:sodium voltage-gated channel beta subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_004588.4(SCN2B):c.82C>T (p.Arg28Trp)
HGVS:
  • NC_000011.10:g.118168740G>A
  • NG_042217.1:g.12883C>T
  • NM_004588.4:c.82C>T
  • NP_004579.1:p.Arg28Trp
  • NC_000011.9:g.118039455G>A
  • O60939:p.Arg28Trp
Protein change:
R28W; ARG28TRP
Links:
UniProtKB: O60939#VAR_029131; OMIM: 601327.0001; dbSNP: 17121819
GMAF:
0.0002(A), 17121819
NCBI 1000 Genomes Browser:
rs17121819
Allele Frequency:
NaN
Molecular consequence:
  • NM_004588.4:c.82C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Atrial fibrillation, familial, 14 (ATFB14)
Identifiers:
MedGen: C3809312; OMIM: 615378

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000083017OMIMno assertion criteria providedPathogenic
(Jun 1, 2009)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation.

Watanabe H, Darbar D, Kaiser DW, Jiramongkolchai K, Chopra S, Donahue BS, Kannankeril PJ, Roden DM.

Circ Arrhythm Electrophysiol. 2009 Jun;2(3):268-75. doi: 10.1161/CIRCEP.108.779181. Epub 2009 Mar 6.

PubMed [citation]
PMID:
19808477
PMCID:
PMC2727725

Details of each submission

From OMIM, SCV000083017.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 61-year-old white man with paroxysmal atrial fibrillation (ATFB14; 615378) and hypertension, Watanabe et al. (2009) identified heterozygosity for a c.82C-T transition in exon 2 of the SCN2B gene, resulting in an arg28-to-trp (R28W) substitution at a highly conserved residue in the extracellular domain. Functional analysis in CHO cells demonstrated a reduction of peak current by 30% at -30 mV with the R28W mutant compared to wildtype. In addition, R28W resulted in a positive shift of voltage dependence of activation compared to wildtype, but did not affect inactivation; there was no difference in persistent sodium current with the mutant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 22, 2017