chr3:38607905:C>T Detail (hg19) (SCN5A)

Information

Genome

Assembly Position
hg19 chr3:38,607,905-38,607,905
hg38 chr3:38,566,414-38,566,414 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.3835G>A NP_000326.2:p.Val1279Ile
NM_198056.2:c.3835G>A NP_932173.1:p.Val1279Ile
NM_001099404.1:c.3835G>A NP_001092874.1:p.Val1279Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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
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 tgv12112319 TogoVar
COSMIC COSM357881 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2014-06-01 no assertion criteria provided Primary dilated cardiomyopathy germline Detail
Uncertain significance 2020-12-28 criteria provided, single submitter not provided germline Detail
Uncertain significance 2024-01-05 criteria provided, multiple submitters, no conflicts Brugada syndrome germline Detail
Uncertain significance 2024-01-11 criteria provided, multiple submitters, no conflicts Cardiac arrhythmia germline Detail
Uncertain significance 2021-10-12 criteria provided, single submitter Brugada syndrome 1,long QT syndrome 3,dilated cardiomyopathy 1E,Sick sinus syndrome 1,Progressive familial heart block, type 1A,sudden infant death syndrome,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10 unknown Detail
Uncertain significance 2021-10-12 criteria provided, single submitter Brugada syndrome 1,long QT syndrome 3,dilated cardiomyopathy 1E,Sick sinus syndrome 1,Progressive familial heart block, type 1A,sudden infant death syndrome,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10 unknown Detail
Uncertain significance 2021-10-12 criteria provided, single submitter Brugada syndrome 1,long QT syndrome 3,dilated cardiomyopathy 1E,Sick sinus syndrome 1,Progressive familial heart block, type 1A,sudden infant death syndrome,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10 unknown Detail
Uncertain significance 2021-10-12 criteria provided, single submitter Brugada syndrome 1,long QT syndrome 3,dilated cardiomyopathy 1E,Sick sinus syndrome 1,Progressive familial heart block, type 1A,sudden infant death syndrome,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10 unknown Detail
Uncertain significance 2021-10-12 criteria provided, single submitter Brugada syndrome 1,long QT syndrome 3,dilated cardiomyopathy 1E,Sick sinus syndrome 1,Progressive familial heart block, type 1A,sudden infant death syndrome,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10 unknown Detail
Uncertain significance 2021-10-12 criteria provided, single submitter Brugada syndrome 1,long QT syndrome 3,dilated cardiomyopathy 1E,Sick sinus syndrome 1,Progressive familial heart block, type 1A,sudden infant death syndrome,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10 unknown Detail
Uncertain significance 2021-10-12 criteria provided, single submitter Brugada syndrome 1,long QT syndrome 3,dilated cardiomyopathy 1E,Sick sinus syndrome 1,Progressive familial heart block, type 1A,sudden infant death syndrome,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10 unknown Detail
Uncertain significance 2021-10-12 criteria provided, single submitter Brugada syndrome 1,long QT syndrome 3,dilated cardiomyopathy 1E,Sick sinus syndrome 1,Progressive familial heart block, type 1A,sudden infant death syndrome,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10 unknown Detail
Uncertain significance 2021-07-12 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.133 Cardiomyopathy, Dilated NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) AND Primary dilated cardiomyopathy ClinVar Detail
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) AND not provided ClinVar Detail
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) AND Brugada syndrome ClinVar Detail
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) AND Cardiac arrhythmia ClinVar Detail
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) AND Cardiovascular phenotype 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
rs199473341 dbSNP
Genome
hg19
Position
chr3:38,607,905-38,607,905
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs199473341
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8650
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)
121062
Allele Counts in All Race (ExAC)
20
Heterozygous Counts in All Race (ExAC)
20
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6520460590441262E-4
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