chr3:38604035:G>A Detail (hg38) (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	chr3:38,645,526-38,645,526 View the variant detail on this assembly version.
hg38	chr3:38,604,035-38,604,035

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.1567C>T	NP_000326.2:p.Arg523Cys
	NM_198056.2:c.1567C>T	NP_932173.1:p.Arg523Cys
	NM_001099404.1:c.1567C>T	NP_001092874.1:p.Arg523Cys
	NM_001160160.1:c.1567C>T	NP_001153632.1:p.Arg523Cys
Ensemble	ENST00000333535.9:c.1567C>T	ENST00000333535.9:p.Arg523Cys
	ENST00000413689.6:c.1567C>T	ENST00000413689.6:p.Arg523Cys
	ENST00000414099.6:c.1567C>T	ENST00000414099.6:p.Arg523Cys
	ENST00000423572.7:c.1567C>T	ENST00000423572.7:p.Arg523Cys
	ENST00000449557.6:c.1567C>T	ENST00000449557.6:p.Arg523Cys
	ENST00000450102.6:c.1567C>T	ENST00000450102.6:p.Arg523Cys
	ENST00000455624.6:c.1567C>T	ENST00000455624.6:p.Arg523Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

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	COSM4993737	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail
Likely pathogenic	2012-12-04	criteria provided, single submitter	dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,Brugada syndrome 1,Atrial fibrillation, familial, 10	unknown	Detail
Likely pathogenic	2012-12-04	criteria provided, single submitter	dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,Brugada syndrome 1,Atrial fibrillation, familial, 10	unknown	Detail
Likely pathogenic	2012-12-04	criteria provided, single submitter	dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,Brugada syndrome 1,Atrial fibrillation, familial, 10	unknown	Detail
Likely pathogenic	2012-12-04	criteria provided, single submitter	dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,Brugada syndrome 1,Atrial fibrillation, familial, 10	unknown	Detail
Likely pathogenic	2012-12-04	criteria provided, single submitter	dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,Brugada syndrome 1,Atrial fibrillation, familial, 10	unknown	Detail
Likely pathogenic	2012-12-04	criteria provided, single submitter	dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,Brugada syndrome 1,Atrial fibrillation, familial, 10	unknown	Detail
Uncertain significance	2024-01-20	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2017-07-14	no assertion criteria provided	Wolff-Parkinson-White pattern	inherited	Detail
Uncertain significance	2023-11-30	criteria provided, multiple submitters, no conflicts	Cardiac arrhythmia	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.130	Congenital long QT syndrome	NA	CLINVAR		Detail
0.440	long QT syndrome 3	NA	CLINVAR		Detail
0.244	Paroxysmal familial ventricular fibrillation	NA	CLINVAR		Detail
0.442	Hereditary bundle branch system defect	NA	CLINVAR		Detail
0.360	CARDIOMYOPATHY, DILATED, 1E	NA	CLINVAR		Detail
0.240	Atrial fibrillation, familial, 10	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) AND Congenital long QT syndrome	ClinVar	Detail
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) AND multiple conditions	ClinVar	Detail
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) AND multiple conditions	ClinVar	Detail
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) AND multiple conditions	ClinVar	Detail
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) AND multiple conditions	ClinVar	Detail
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) AND multiple conditions	ClinVar	Detail
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) AND multiple conditions	ClinVar	Detail
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) AND not provided	ClinVar	Detail
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) AND Wolff-Parkinson-White pattern	ClinVar	Detail
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) AND Cardiac arrhythmia	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	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: rs199473119 dbSNP
Genome: hg38
Position: chr3:38,604,035-38,604,035
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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