chr3:38551243:G>A Detail (hg38) (SCN5A)

Information

Genome

Assembly Position
hg19 chr3:38,592,734-38,592,734 View the variant detail on this assembly version.
hg38 chr3:38,551,243-38,551,243

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.5129C>T NP_000326.2:p.Ser1710Leu
NM_198056.2:c.5129C>T NP_932173.1:p.Ser1710Leu
NM_001099404.1:c.5129C>T NP_001092874.1:p.Ser1710Leu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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 Pathogenic Likely pathogenic
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic sick sinus syndrome germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
Pathogenic brugada syndrome unknown MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2000-08-11 no assertion criteria provided Ventricular fibrillation, paroxysmal familial, type 1 germline Detail
not provided no assertion provided Ventricular fibrillation germline Detail
Pathogenic Likely pathogenic 2023-12-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic Likely pathogenic 2017-11-17 criteria provided, multiple submitters, no conflicts Brugada syndrome 1 germline unknown Detail
Likely pathogenic 2022-01-12 criteria provided, single submitter germline Detail
Likely pathogenic 2020-12-17 criteria provided, single submitter Cardiac arrhythmia germline Detail
Likely pathogenic 2021-09-20 criteria provided, single submitter Progressive familial heart block, type 1A,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1,sudden infant death syndrome,dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1 unknown Detail
Likely pathogenic 2021-09-20 criteria provided, single submitter Progressive familial heart block, type 1A,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1,sudden infant death syndrome,dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1 unknown Detail
Likely pathogenic 2021-09-20 criteria provided, single submitter Progressive familial heart block, type 1A,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1,sudden infant death syndrome,dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1 unknown Detail
Likely pathogenic 2021-09-20 criteria provided, single submitter Progressive familial heart block, type 1A,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1,sudden infant death syndrome,dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1 unknown Detail
Likely pathogenic 2021-09-20 criteria provided, single submitter Progressive familial heart block, type 1A,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1,sudden infant death syndrome,dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1 unknown Detail
Likely pathogenic 2021-09-20 criteria provided, single submitter Progressive familial heart block, type 1A,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1,sudden infant death syndrome,dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1 unknown Detail
Likely pathogenic 2021-09-20 criteria provided, single submitter Progressive familial heart block, type 1A,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1,sudden infant death syndrome,dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1 unknown Detail
Likely pathogenic 2021-09-20 criteria provided, single submitter Progressive familial heart block, type 1A,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1,sudden infant death syndrome,dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1 unknown Detail
Likely pathogenic 2019-12-03 criteria provided, single submitter Brugada syndrome germline Detail
Likely pathogenic 2022-09-15 criteria provided, single submitter long QT syndrome 3,Brugada syndrome 1 inherited Detail
Likely pathogenic 2022-09-15 criteria provided, single submitter long QT syndrome 3,Brugada syndrome 1 inherited Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.137 Ventricular fibrillation NA CLINVAR Detail
0.244 Paroxysmal familial ventricular fibrillation NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND Ventricular fibrillation, paroxysmal familial, type ... ClinVar Detail
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND Ventricular fibrillation ClinVar Detail
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND not provided ClinVar Detail
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND Brugada syndrome 1 ClinVar Detail
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND Cardiovascular phenotype ClinVar Detail
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND Cardiac arrhythmia ClinVar Detail
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND Brugada syndrome ClinVar Detail
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND multiple conditions 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
rs137854604 dbSNP
Genome
hg38
Position
chr3:38,551,243-38,551,243
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
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)
121318
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)
8.24279991427488E-6
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