chr3:38592968:C>T Detail (hg19) (SCN5A)

Information

Genome

Assembly Position
hg19 chr3:38,592,968-38,592,968
hg38 chr3:38,551,477-38,551,477 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.4895G>A NP_000326.2:p.Arg1632His
NM_198056.2:c.4895G>A NP_932173.1:p.Arg1632His
NM_001099404.1:c.4895G>A NP_001092874.1:p.Arg1632His
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
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 COSM4877817 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 Conduction system disorder germline Detail
Pathogenic Likely pathogenic 2023-10-18 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2018-08-22 criteria provided, single submitter long QT syndrome 3,Brugada syndrome 1 germline Detail
Likely pathogenic 2018-08-22 criteria provided, single submitter long QT syndrome 3,Brugada syndrome 1 germline Detail
Likely pathogenic 2020-02-28 criteria provided, single submitter Sick sinus syndrome 1 germline Detail
Uncertain significance 2021-10-01 criteria provided, single submitter sudden infant death syndrome germline Detail
Likely pathogenic 2023-06-08 criteria provided, single submitter germline Detail
Pathogenic 2023-08-29 criteria provided, single submitter Brugada syndrome 1 germline Detail
Likely pathogenic 2023-09-18 criteria provided, single submitter Cardiac arrhythmia germline Detail
Likely pathogenic 2024-02-05 criteria provided, single submitter Brugada syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) AND Conduction system disorder ClinVar Detail
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) AND not provided ClinVar Detail
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) AND Sick sinus syndrome 1 ClinVar Detail
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) AND SUDDEN INFANT DEATH SYNDROME ClinVar Detail
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) AND Cardiovascular phenotype ClinVar Detail
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) AND Brugada syndrome 1 ClinVar Detail
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) AND Cardiac arrhythmia ClinVar Detail
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) AND Brugada syndrome ClinVar 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
rs199473286 dbSNP
Genome
hg19
Position
chr3:38,592,968-38,592,968
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121382
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)
8.238453806989504E-6
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