chr3:38550988:T>C 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	chr3:38,592,479-38,592,479 View the variant detail on this assembly version.
hg38	chr3:38,550,988-38,550,988

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.5384A>G	NP_000326.2:p.Tyr1795Cys
	NM_198056.2:c.5384A>G	NP_932173.1:p.Tyr1795Cys
	NM_001099404.1:c.5384A>G	NP_001092874.1:p.Tyr1795Cys
	NM_001160160.1:c.5384A>G	NP_001153632.1:p.Tyr1795Cys
Ensemble	ENST00000333535.9:c.5384A>G	ENST00000333535.9:p.Tyr1795Cys
	ENST00000413689.6:c.5384A>G	ENST00000413689.6:p.Tyr1795Cys
	ENST00000414099.6:c.5330A>G	ENST00000414099.6:p.Tyr1777Cys
	ENST00000423572.7:c.5381A>G	ENST00000423572.7:p.Tyr1794Cys
	ENST00000449557.6:c.5222A>G	ENST00000449557.6:p.Tyr1741Cys
	ENST00000450102.6:c.5222A>G	ENST00000450102.6:p.Tyr1741Cys
	ENST00000455624.6:c.5285A>G	ENST00000455624.6:p.Tyr1762Cys

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
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		sick sinus syndrome	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University
Pathogenic		other	germline	MGS000001 (TMGS000178)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2001-08-17	no assertion criteria provided	long QT syndrome 3	germline	Detail
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail
Pathogenic	2020-02-06	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2017-08-07	criteria provided, single submitter		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
<0.001	Brugada Syndrome (disorder)	We report the analysis of two novel mutations on the same codon, Y1795C (LQT-3) ...	BeFree	11410597	Detail
0.335	long QT syndrome	Recently, two novel missense mutations at the same codon in the gene encoding th...	BeFree	16929919	Detail
0.335	long QT syndrome	Interestingly another LQT-3 mutant (Y1795C) shows no change in flecainide sensit...	BeFree	12814325	Detail
0.837	Brugada Syndrome (disorder)	Recently, two novel missense mutations at the same codon in the gene encoding th...	BeFree	16929919	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys) AND Long QT syndrome 3	ClinVar	Detail
NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys) AND Congenital long QT syndrome	ClinVar	Detail
NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys) AND not provided	ClinVar	Detail
NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys) AND Cardiovascular phenotype	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
We report the analysis of two novel mutations on the same codon, Y1795C (LQT-3) and Y1795H (BrS), ex...	DisGeNET	Detail
Recently, two novel missense mutations at the same codon in the gene encoding the cardiac Na+ channe...	DisGeNET	Detail
Interestingly another LQT-3 mutant (Y1795C) shows no change in flecainide sensitivity, suggesting th...	DisGeNET	Detail
Recently, two novel missense mutations at the same codon in the gene encoding the cardiac Na+ channe...	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: rs137854614 dbSNP
Genome: hg38
Position: chr3:38,550,988-38,550,988
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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