chr3:38613781:C>T Detail (hg38) (SCN5A)

Information

Genome

Assembly Position
hg19 chr3:38,655,272-38,655,272 View the variant detail on this assembly version.
hg38 chr3:38,613,781-38,613,781

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.665G>A NP_000326.2:p.Arg222Gln
NM_198056.2:c.665G>A NP_932173.1:p.Arg222Gln
NM_001099404.1:c.703+194G>A
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 tgv317584132 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
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2021-11-09 criteria provided, single submitter dilated cardiomyopathy 1E germline Detail
not provided no assertion provided Congenital long QT syndrome germline Detail
Pathogenic 2023-12-30 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2013-03-06 no assertion criteria provided Primary dilated cardiomyopathy germline Detail
Pathogenic 2018-05-22 criteria provided, single submitter long QT syndrome 3 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Atrial fibrillation, familial, 10,Ventricular fibrillation, paroxysmal familial, type 1,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,dilated cardiomyopathy 1E,Progressive familial heart block, type 1A,long QT syndrome 3 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Atrial fibrillation, familial, 10,Ventricular fibrillation, paroxysmal familial, type 1,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,dilated cardiomyopathy 1E,Progressive familial heart block, type 1A,long QT syndrome 3 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Atrial fibrillation, familial, 10,Ventricular fibrillation, paroxysmal familial, type 1,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,dilated cardiomyopathy 1E,Progressive familial heart block, type 1A,long QT syndrome 3 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Atrial fibrillation, familial, 10,Ventricular fibrillation, paroxysmal familial, type 1,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,dilated cardiomyopathy 1E,Progressive familial heart block, type 1A,long QT syndrome 3 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Atrial fibrillation, familial, 10,Ventricular fibrillation, paroxysmal familial, type 1,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,dilated cardiomyopathy 1E,Progressive familial heart block, type 1A,long QT syndrome 3 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Atrial fibrillation, familial, 10,Ventricular fibrillation, paroxysmal familial, type 1,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,dilated cardiomyopathy 1E,Progressive familial heart block, type 1A,long QT syndrome 3 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Atrial fibrillation, familial, 10,Ventricular fibrillation, paroxysmal familial, type 1,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,dilated cardiomyopathy 1E,Progressive familial heart block, type 1A,long QT syndrome 3 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Atrial fibrillation, familial, 10,Ventricular fibrillation, paroxysmal familial, type 1,Brugada syndrome 1,sudden infant death syndrome,Sick sinus syndrome 1,dilated cardiomyopathy 1E,Progressive familial heart block, type 1A,long QT syndrome 3 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.130 Congenital long QT syndrome NA CLINVAR Detail
0.360 CARDIOMYOPATHY, DILATED, 1E NA CLINVAR Detail
0.133 Cardiomyopathy, Dilated R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilate... BeFree 22999724 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) AND Dilated cardiomyopathy 1E ClinVar Detail
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) AND Congenital long QT syndrome ClinVar Detail
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) AND not provided ClinVar Detail
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) AND Primary dilated cardiomyopathy ClinVar Detail
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) AND Long QT syndrome 3 ClinVar Detail
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. 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
rs45546039 dbSNP
Genome
hg38
Position
chr3:38,613,781-38,613,781
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser