chr3:38604067:G>A Detail (hg38) (SCN5A)

Information

Genome

Assembly Position
hg19 chr3:38,645,558-38,645,558 View the variant detail on this assembly version.
hg38 chr3:38,604,067-38,604,067

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.1535C>T NP_000326.2:p.Thr512Ile
NM_198056.2:c.1535C>T NP_932173.1:p.Thr512Ile
NM_001099404.1:c.1535C>T NP_001092874.1:p.Thr512Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 600163 OMIM
HGNC 10593 HGNC
Ensembl ENSG00000183873 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2008-04-15 no assertion criteria provided Progressive familial heart block, type 1A germline Detail
not provided no assertion provided Conduction system disorder germline Detail
not provided no assertion provided Brugada syndrome 1 germline Detail
Uncertain significance 2023-09-27 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2022-02-24 criteria provided, single submitter dilated cardiomyopathy 1E,long QT syndrome 3,Sick sinus syndrome 1,Brugada syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,sudden infant death syndrome,Atrial fibrillation, familial, 10 unknown Detail
Uncertain significance 2022-02-24 criteria provided, single submitter dilated cardiomyopathy 1E,long QT syndrome 3,Sick sinus syndrome 1,Brugada syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,sudden infant death syndrome,Atrial fibrillation, familial, 10 unknown Detail
Uncertain significance 2022-02-24 criteria provided, single submitter dilated cardiomyopathy 1E,long QT syndrome 3,Sick sinus syndrome 1,Brugada syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,sudden infant death syndrome,Atrial fibrillation, familial, 10 unknown Detail
Uncertain significance 2022-02-24 criteria provided, single submitter dilated cardiomyopathy 1E,long QT syndrome 3,Sick sinus syndrome 1,Brugada syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,sudden infant death syndrome,Atrial fibrillation, familial, 10 unknown Detail
Uncertain significance 2022-02-24 criteria provided, single submitter dilated cardiomyopathy 1E,long QT syndrome 3,Sick sinus syndrome 1,Brugada syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,sudden infant death syndrome,Atrial fibrillation, familial, 10 unknown Detail
Uncertain significance 2022-02-24 criteria provided, single submitter dilated cardiomyopathy 1E,long QT syndrome 3,Sick sinus syndrome 1,Brugada syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,sudden infant death syndrome,Atrial fibrillation, familial, 10 unknown Detail
Uncertain significance 2022-02-24 criteria provided, single submitter dilated cardiomyopathy 1E,long QT syndrome 3,Sick sinus syndrome 1,Brugada syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,sudden infant death syndrome,Atrial fibrillation, familial, 10 unknown Detail
Uncertain significance 2022-02-24 criteria provided, single submitter dilated cardiomyopathy 1E,long QT syndrome 3,Sick sinus syndrome 1,Brugada syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,sudden infant death syndrome,Atrial fibrillation, familial, 10 unknown Detail
Uncertain significance 2023-10-02 criteria provided, single submitter Cardiac arrhythmia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) NA CLINVAR Detail
0.442 Hereditary bundle branch system defect NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198056.2(SCN5A):c.[1535C>T;1673A>G] AND Progressive familial heart block, type 1A ClinVar Detail
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) AND Conduction system disorder ClinVar Detail
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) AND Brugada syndrome 1 ClinVar Detail
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) AND not provided ClinVar Detail
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) AND Cardiac arrhythmia ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1805124 dbSNP
Genome
hg38
Position
chr3:38,604,067-38,604,067
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
4730
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
67122
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.4898244986740562E-5
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