chr3:38601661:C>T Detail (hg19) (SCN5A)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr3:38,601,661-38,601,661
hg38	chr3:38,560,170-38,560,170 View the variant detail on this assembly version.

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_001099404.1:c.4222G>A	NP_001092874.1:p.Gly1408Arg
	NM_001160160.1:c.4222G>A	NP_001153632.1:p.Gly1408Arg
	NM_000335.4:c.4222G>A	NP_000326.2:p.Gly1408Arg
	NM_198056.2:c.4222G>A	NP_932173.1:p.Gly1408Arg
Ensemble	ENST00000413689.6:c.4222G>A	ENST00000413689.6:p.Gly1408Arg
	ENST00000333535.9:c.4222G>A	ENST00000333535.9:p.Gly1408Arg
	ENST00000423572.7:c.4219G>A	ENST00000423572.7:p.Gly1407Arg
	ENST00000414099.6:c.4222G>A	ENST00000414099.6:p.Gly1408Arg
	ENST00000449557.6:c.4060G>A	ENST00000449557.6:p.Gly1354Arg
	ENST00000450102.6:c.4060G>A	ENST00000450102.6:p.Gly1354Arg
	ENST00000455624.6:c.4219G>A	ENST00000455624.6:p.Gly1407Arg

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

SCN5A

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		brugada syndrome	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		sick sinus syndrome	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University
Pathogenic		brugada syndrome	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2003-10-01	no assertion criteria provided	Sick sinus syndrome 1	germline	Detail
Pathogenic	2003-10-01	no assertion criteria provided	Brugada syndrome 1	germline	Detail
Pathogenic	2003-10-01	no assertion criteria provided	Conduction system disorder	germline	Detail
Likely pathogenic	2017-01-13	criteria provided, single submitter	Brugada syndrome	germline	Detail
Pathogenic	2024-01-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-03-16	criteria provided, single submitter		germline	Detail
Pathogenic	2022-03-08	criteria provided, single submitter	Sick sinus syndrome 1,dilated cardiomyopathy 1E,sudden infant death syndrome,Brugada syndrome 1,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10,Progressive familial heart block, type 1A	unknown	Detail
Pathogenic	2022-03-08	criteria provided, single submitter	Sick sinus syndrome 1,dilated cardiomyopathy 1E,sudden infant death syndrome,Brugada syndrome 1,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10,Progressive familial heart block, type 1A	unknown	Detail
Pathogenic	2022-03-08	criteria provided, single submitter	Sick sinus syndrome 1,dilated cardiomyopathy 1E,sudden infant death syndrome,Brugada syndrome 1,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10,Progressive familial heart block, type 1A	unknown	Detail
Pathogenic	2022-03-08	criteria provided, single submitter	Sick sinus syndrome 1,dilated cardiomyopathy 1E,sudden infant death syndrome,Brugada syndrome 1,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10,Progressive familial heart block, type 1A	unknown	Detail
Pathogenic	2022-03-08	criteria provided, single submitter	Sick sinus syndrome 1,dilated cardiomyopathy 1E,sudden infant death syndrome,Brugada syndrome 1,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10,Progressive familial heart block, type 1A	unknown	Detail
Pathogenic	2022-03-08	criteria provided, single submitter	Sick sinus syndrome 1,dilated cardiomyopathy 1E,sudden infant death syndrome,Brugada syndrome 1,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10,Progressive familial heart block, type 1A	unknown	Detail
Pathogenic	2022-03-08	criteria provided, single submitter	Sick sinus syndrome 1,dilated cardiomyopathy 1E,sudden infant death syndrome,Brugada syndrome 1,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10,Progressive familial heart block, type 1A	unknown	Detail
Pathogenic	2022-03-08	criteria provided, single submitter	Sick sinus syndrome 1,dilated cardiomyopathy 1E,sudden infant death syndrome,Brugada syndrome 1,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10,Progressive familial heart block, type 1A	unknown	Detail
Pathogenic	2023-12-07	criteria provided, single submitter	Congenital long QT syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.837	Brugada Syndrome (disorder)	NA	CLINVAR		Detail
0.120	CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)	NA	CLINVAR		Detail
0.360	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) AND Sick sinus syndrome 1	ClinVar	Detail
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) AND Brugada syndrome 1	ClinVar	Detail
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) AND Conduction system disorder	ClinVar	Detail
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) AND Brugada syndrome	ClinVar	Detail
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) AND not provided	ClinVar	Detail
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) AND Cardiovascular phenotype	ClinVar	Detail
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) AND multiple conditions	ClinVar	Detail
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) AND multiple conditions	ClinVar	Detail
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) AND multiple conditions	ClinVar	Detail
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) AND multiple conditions	ClinVar	Detail
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) AND multiple conditions	ClinVar	Detail
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) AND multiple conditions	ClinVar	Detail
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) AND multiple conditions	ClinVar	Detail
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) AND multiple conditions	ClinVar	Detail
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) AND Congenital long QT syndrome	ClinVar	Detail
NA	DisGeNET	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: rs137854612 dbSNP
Genome: hg19
Position: chr3:38,601,661-38,601,661
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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