chr3:38591902:G>T Detail (hg19) (SCN5A)

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

Information

Genome

Assembly	Position
hg19	chr3:38,591,902-38,591,902
hg38	chr3:38,550,411-38,550,411 View the variant detail on this assembly version.

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.5961C>A	NP_000326.2:p.Asn1987Lys
	NM_198056.2:c.5961C>A	NP_932173.1:p.Asn1987Lys
	NM_001099404.1:c.5961C>A	NP_001092874.1:p.Asn1987Lys
	NM_001160160.1:c.5961C>A	NP_001153632.1:p.Asn1987Lys
Ensemble	ENST00000333535.9:c.5961C>A	ENST00000333535.9:p.Asn1987Lys
	ENST00000413689.6:c.5961C>A	ENST00000413689.6:p.Asn1987Lys
	ENST00000414099.6:c.5907C>A	ENST00000414099.6:p.Asn1969Lys
	ENST00000423572.7:c.5958C>A	ENST00000423572.7:p.Asn1986Lys
	ENST00000449557.6:c.5799C>A	ENST00000449557.6:p.Asn1933Lys
	ENST00000450102.6:c.5799C>A	ENST00000450102.6:p.Asn1933Lys
	ENST00000455624.6:c.5862C>A	ENST00000455624.6:p.Asn1954Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2008-01-01	no assertion criteria provided	Atrial fibrillation, familial, 10	germline	Detail
Uncertain significance	2014-06-01	no assertion criteria provided	atrial fibrillation	germline	Detail
Uncertain significance	2014-03-14	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2022-01-14	criteria provided, single submitter	Brugada syndrome	germline	Detail
Uncertain significance	2018-02-23	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2022-12-05	criteria provided, multiple submitters, no conflicts	Cardiac arrhythmia	germline	Detail
Uncertain significance	2020-03-23	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	Atrial fibrillation, familial, 10	NA	CLINVAR		Detail
0.263	atrial fibrillation	NA	CLINVAR		Detail
0.120	Atrial Fibrillation Adverse Event	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys) AND Atrial fibrillation, familial, 10	ClinVar	Detail
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys) AND Atrial fibrillation	ClinVar	Detail
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys) AND not specified	ClinVar	Detail
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys) AND Brugada syndrome	ClinVar	Detail
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys) AND not provided	ClinVar	Detail
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys) AND Cardiac arrhythmia	ClinVar	Detail
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys) AND Cardiovascular phenotype	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: rs199473335 dbSNP
Genome: hg19
Position: chr3:38,591,902-38,591,902
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8536
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 110464
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 9.052723059096176E-6

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