chr3:38579425:G>A Detail (hg38) (SCN5A, LOC110121269)

Information

Genome

Assembly Position
hg19 chr3:38,620,916-38,620,916 View the variant detail on this assembly version.
hg38 chr3:38,579,425-38,579,425

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.3299C>T NP_000326.2:p.Ala1100Val
NM_198056.2:c.3299C>T NP_932173.1:p.Ala1100Val
NM_001099404.1:c.3299C>T NP_001092874.1:p.Ala1100Val
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 tgv317582911 TogoVar
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 Congenital long QT syndrome germline Detail
Uncertain significance 2014-06-01 no assertion criteria provided long QT syndrome germline Detail
Uncertain significance 2024-01-23 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely benign 2023-03-17 criteria provided, single submitter germline Detail
Uncertain significance 2024-01-11 criteria provided, multiple submitters, no conflicts Cardiac arrhythmia germline Detail
Uncertain significance 2022-02-10 criteria provided, single submitter Atrial fibrillation, familial, 10,Progressive familial heart block, type 1A,Sick sinus syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,sudden infant death syndrome,long QT syndrome 3,Brugada syndrome 1,dilated cardiomyopathy 1E unknown Detail
Uncertain significance 2022-02-10 criteria provided, single submitter Atrial fibrillation, familial, 10,Progressive familial heart block, type 1A,Sick sinus syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,sudden infant death syndrome,long QT syndrome 3,Brugada syndrome 1,dilated cardiomyopathy 1E unknown Detail
Uncertain significance 2022-02-10 criteria provided, single submitter Atrial fibrillation, familial, 10,Progressive familial heart block, type 1A,Sick sinus syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,sudden infant death syndrome,long QT syndrome 3,Brugada syndrome 1,dilated cardiomyopathy 1E unknown Detail
Uncertain significance 2022-02-10 criteria provided, single submitter Atrial fibrillation, familial, 10,Progressive familial heart block, type 1A,Sick sinus syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,sudden infant death syndrome,long QT syndrome 3,Brugada syndrome 1,dilated cardiomyopathy 1E unknown Detail
Uncertain significance 2022-02-10 criteria provided, single submitter Atrial fibrillation, familial, 10,Progressive familial heart block, type 1A,Sick sinus syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,sudden infant death syndrome,long QT syndrome 3,Brugada syndrome 1,dilated cardiomyopathy 1E unknown Detail
Uncertain significance 2022-02-10 criteria provided, single submitter Atrial fibrillation, familial, 10,Progressive familial heart block, type 1A,Sick sinus syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,sudden infant death syndrome,long QT syndrome 3,Brugada syndrome 1,dilated cardiomyopathy 1E unknown Detail
Uncertain significance 2022-02-10 criteria provided, single submitter Atrial fibrillation, familial, 10,Progressive familial heart block, type 1A,Sick sinus syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,sudden infant death syndrome,long QT syndrome 3,Brugada syndrome 1,dilated cardiomyopathy 1E unknown Detail
Uncertain significance 2022-02-10 criteria provided, single submitter Atrial fibrillation, familial, 10,Progressive familial heart block, type 1A,Sick sinus syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,sudden infant death syndrome,long QT syndrome 3,Brugada syndrome 1,dilated cardiomyopathy 1E unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.130 Congenital long QT syndrome NA CLINVAR Detail
0.335 long QT syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) AND Congenital long QT syndrome ClinVar Detail
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) AND Long QT syndrome ClinVar Detail
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) AND not provided ClinVar Detail
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) AND Cardiovascular phenotype ClinVar Detail
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) AND Cardiac arrhythmia ClinVar Detail
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) AND multiple conditions 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
rs199473192 dbSNP
Genome
hg38
Position
chr3:38,579,425-38,579,425
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
7894
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)
106054
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
6
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.6574952382748414E-5
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