chr3:38645378:G>T Detail (hg19) (SCN5A)

Information

Genome

Assembly Position
hg19 chr3:38,645,378-38,645,378
hg38 chr3:38,603,887-38,603,887 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.1715C>A NP_000326.2:p.Ala572Asp
NM_198056.2:c.1715C>A NP_932173.1:p.Ala572Asp
NM_001099404.1:c.1715C>A NP_001092874.1:p.Ala572Asp
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 Benign Likely benign
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
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
Likely benign 2017-04-27 criteria provided, single submitter Ventricular fibrillation, paroxysmal familial, type 1 germline Detail
Benign Likely benign 2017-12-11 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely benign 2014-08-29 no assertion criteria provided Left ventricular noncompaction cardiomyopathy germline Detail
Likely benign 2014-08-29 no assertion criteria provided germline Detail
Benign 2015-10-01 criteria provided, single submitter germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Sick sinus syndrome 1 germline Detail
Likely benign 2017-04-27 criteria provided, single submitter long QT syndrome 3 germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Progressive familial heart block, type 1A germline Detail
Likely benign 2017-04-27 criteria provided, single submitter dilated cardiomyopathy 1E germline Detail
Benign Likely benign 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely benign 2017-08-16 criteria provided, single submitter arrhythmogenic right ventricular cardiomyopathy germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Brugada syndrome 1 germline Detail
Benign 2018-03-19 criteria provided, single submitter Cardiac arrhythmia germline Detail
Benign 2021-09-06 criteria provided, single submitter dilated cardiomyopathy 1E,long QT syndrome 3,sudden infant death syndrome,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1 unknown Detail
Benign 2021-09-06 criteria provided, single submitter dilated cardiomyopathy 1E,long QT syndrome 3,sudden infant death syndrome,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1 unknown Detail
Benign 2021-09-06 criteria provided, single submitter dilated cardiomyopathy 1E,long QT syndrome 3,sudden infant death syndrome,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1 unknown Detail
Benign 2021-09-06 criteria provided, single submitter dilated cardiomyopathy 1E,long QT syndrome 3,sudden infant death syndrome,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1 unknown Detail
Benign 2021-09-06 criteria provided, single submitter dilated cardiomyopathy 1E,long QT syndrome 3,sudden infant death syndrome,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1 unknown Detail
Benign 2021-09-06 criteria provided, single submitter dilated cardiomyopathy 1E,long QT syndrome 3,sudden infant death syndrome,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1 unknown Detail
Benign 2021-09-06 criteria provided, single submitter dilated cardiomyopathy 1E,long QT syndrome 3,sudden infant death syndrome,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1 unknown Detail
Benign 2021-09-06 criteria provided, single submitter dilated cardiomyopathy 1E,long QT syndrome 3,sudden infant death syndrome,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1 unknown Detail
Benign 2023-03-03 criteria provided, single submitter cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.335 long QT syndrome In contrast, in 6 of 60 women (10%), we identified 5 rare missense variants in S... BeFree 18071069 Detail
0.130 Congenital long QT syndrome NA CLINVAR Detail
0.244 Paroxysmal familial ventricular fibrillation NA CLINVAR Detail
0.440 long QT syndrome 3 A cardiac channel gene screen for LQTS-causing mutations in KCNQ1 (LQT1), KCNH2 ... UNIPROT 15840476 Detail
0.240 Atrial fibrillation, familial, 10 Compendium of cardiac channel mutations in 541 consecutive unrelated patients re... UNIPROT 15840476 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND Congenital long QT syndrome ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND Ventricular fibrillation, paroxysmal familial, type 1 ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND not specified ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND Left ventricular noncompaction cardiomyopathy ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND Cardiac arrest ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND Cardiovascular phenotype ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND Sick sinus syndrome 1 ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND Long QT syndrome 3 ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND Progressive familial heart block, type 1A ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND Dilated cardiomyopathy 1E ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND not provided ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND Arrhythmogenic right ventricular cardiomyopathy ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND Brugada syndrome 1 ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND Cardiac arrhythmia ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) AND Cardiomyopathy ClinVar Detail
In contrast, in 6 of 60 women (10%), we identified 5 rare missense variants in SCN5A that either had... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A cardiac channel gene screen for LQTS-causing mutations in KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3)... DisGeNET Detail
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT s... 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
rs36210423 dbSNP
Genome
hg19
Position
chr3:38,645,378-38,645,378
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8622
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)
120592
Allele Counts in All Race (ExAC)
519
Heterozygous Counts in All Race (ExAC)
509
Homozygous Counts in All Race (ExAC)
5
Allele Frequency in All Race (ExAC)
0.00430376807748441
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