chr3:38627529:G>A 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	chr3:38,627,529-38,627,529
hg38	chr3:38,586,038-38,586,038 View the variant detail on this assembly version.

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_001099404.1:c.2440C>T	NP_001092874.1:p.Arg814Trp
	NM_001160160.1:c.2440C>T	NP_001153632.1:p.Arg814Trp
	NM_000335.4:c.2440C>T	NP_000326.2:p.Arg814Trp
	NM_198056.2:c.2440C>T	NP_932173.1:p.Arg814Trp
Ensemble	ENST00000413689.6:c.2440C>T	ENST00000413689.6:p.Arg814Trp
	ENST00000333535.9:c.2440C>T	ENST00000333535.9:p.Arg814Trp
	ENST00000423572.7:c.2440C>T	ENST00000423572.7:p.Arg814Trp
	ENST00000450102.6:c.2440C>T	ENST00000450102.6:p.Arg814Trp
	ENST00000455624.6:c.2440C>T	ENST00000455624.6:p.Arg814Trp
	ENST00000414099.6:c.2440C>T	ENST00000414099.6:p.Arg814Trp
	ENST00000449557.6:c.2440C>T	ENST00000449557.6:p.Arg814Trp

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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		DCM	germline	MGS000009 (TMGS000039)	Shoji Tsuji	Tokyo University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-25	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2015-10-31	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2021-07-13	criteria provided, multiple submitters, no conflicts		germline	Detail
Pathogenic	2019-11-22	criteria provided, single submitter	Sick sinus syndrome 1	unknown	Detail
Likely pathogenic	2019-01-01	criteria provided, single submitter	dilated cardiomyopathy 1E	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.010	Heart Diseases	In the DCM cohort, additional missense (T220I, R814W, D1595H) and truncation (25...	BeFree	15671429	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) AND not provided	ClinVar	Detail
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) AND Cardiovascular phenotype	ClinVar	Detail
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) AND Sick sinus syndrome 1	ClinVar	Detail
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) AND Dilated cardiomyopathy 1E	ClinVar	Detail
In the DCM cohort, additional missense (T220I, R814W, D1595H) and truncation (2550-2551insTG) SCN5A ...	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: rs199473161 dbSNP
Genome: hg19
Position: chr3:38,627,529-38,627,529
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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