chr3:38550865:A>G Detail (hg38) (SCN5A)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr3:38,592,356-38,592,356 View the variant detail on this assembly version.
hg38	chr3:38,550,865-38,550,865

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.5507T>C	NP_000326.2:p.Ile1836Thr
	NM_198056.2:c.5507T>C	NP_932173.1:p.Ile1836Thr
	NM_001099404.1:c.5507T>C	NP_001092874.1:p.Ile1836Thr
	NM_001160160.1:c.5507T>C	NP_001153632.1:p.Ile1836Thr
Ensemble	ENST00000333535.9:c.5507T>C	ENST00000333535.9:p.Ile1836Thr
	ENST00000413689.6:c.5507T>C	ENST00000413689.6:p.Ile1836Thr
	ENST00000414099.6:c.5453T>C	ENST00000414099.6:p.Ile1818Thr
	ENST00000423572.7:c.5504T>C	ENST00000423572.7:p.Ile1835Thr
	ENST00000449557.6:c.5345T>C	ENST00000449557.6:p.Ile1782Thr
	ENST00000450102.6:c.5345T>C	ENST00000450102.6:p.Ile1782Thr
	ENST00000455624.6:c.5408T>C	ENST00000455624.6:p.Ile1803Thr

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	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	tgv317581755	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2008-05-01	no assertion criteria provided	dilated cardiomyopathy 1E	germline	Detail
Conflicting interpretations of pathogenicity	2024-01-22	criteria provided, conflicting interpretations	not provided	germline	Detail
Uncertain significance	2014-06-01	no assertion criteria provided	Primary dilated cardiomyopathy	germline	Detail
Likely benign	2020-07-13	criteria provided, single submitter	not specified	germline	Detail
Likely benign	2019-09-24	criteria provided, single submitter		germline	Detail
Likely benign	2018-11-26	criteria provided, single submitter	Cardiac arrhythmia	germline	Detail
Likely benign	2023-10-20	criteria provided, single submitter	SCN5A-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	CARDIOMYOPATHY, DILATED, 1E	NA	CLINVAR		Detail
0.133	Cardiomyopathy, Dilated	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) AND Dilated cardiomyopathy 1E	ClinVar	Detail
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) AND not provided	ClinVar	Detail
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) AND not specified	ClinVar	Detail
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) AND Cardiovascular phenotype	ClinVar	Detail
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) AND Cardiac arrhythmia	ClinVar	Detail
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) AND SCN5A-related disorder	ClinVar	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: rs45563942 dbSNP
Genome: hg38
Position: chr3:38,550,865-38,550,865
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8630
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): 120774
Allele Counts in All Race (ExAC): 28
Heterozygous Counts in All Race (ExAC): 28
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.318379783728286E-4

Genome browser