chr3:38581170:C>A Detail (hg38) (SCN5A, LOC110121269)

Information

Genome

Assembly Position
hg19 chr3:38,622,661-38,622,661 View the variant detail on this assembly version.
hg38 chr3:38,581,170-38,581,170

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.2989G>T NP_000326.2:p.Ala997Ser
NM_198056.2:c.2989G>T NP_932173.1:p.Ala997Ser
NM_001099404.1:c.2989G>T NP_001092874.1:p.Ala997Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2001-11-14 no assertion criteria provided long QT syndrome 3 germline Detail
not provided no assertion provided Congenital long QT syndrome germline Detail
Conflicting interpretations of pathogenicity 2024-01-16 criteria provided, conflicting interpretations not provided germline Detail
Likely pathogenic 2022-02-15 criteria provided, single submitter Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1,dilated cardiomyopathy 1E,sudden infant death syndrome,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A unknown Detail
Likely pathogenic 2022-02-15 criteria provided, single submitter Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1,dilated cardiomyopathy 1E,sudden infant death syndrome,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A unknown Detail
Likely pathogenic 2022-02-15 criteria provided, single submitter Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1,dilated cardiomyopathy 1E,sudden infant death syndrome,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A unknown Detail
Likely pathogenic 2022-02-15 criteria provided, single submitter Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1,dilated cardiomyopathy 1E,sudden infant death syndrome,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A unknown Detail
Likely pathogenic 2022-02-15 criteria provided, single submitter Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1,dilated cardiomyopathy 1E,sudden infant death syndrome,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A unknown Detail
Likely pathogenic 2022-02-15 criteria provided, single submitter Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1,dilated cardiomyopathy 1E,sudden infant death syndrome,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A unknown Detail
Likely pathogenic 2022-02-15 criteria provided, single submitter Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1,dilated cardiomyopathy 1E,sudden infant death syndrome,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A unknown Detail
Likely pathogenic 2022-02-15 criteria provided, single submitter Sick sinus syndrome 1,Atrial fibrillation, familial, 10,Brugada syndrome 1,dilated cardiomyopathy 1E,sudden infant death syndrome,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A unknown Detail
Uncertain significance 2023-12-18 criteria provided, multiple submitters, no conflicts Cardiac arrhythmia germline Detail
Likely pathogenic 2022-12-07 criteria provided, single submitter SCN5A-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.130 Congenital long QT syndrome NA CLINVAR Detail
0.837 Brugada Syndrome (disorder) NA CLINVAR Detail
0.440 long QT syndrome 3 NA CLINVAR Detail
0.386 sudden infant death syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) AND Long QT syndrome 3 ClinVar Detail
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) AND Congenital long QT syndrome ClinVar Detail
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) AND not provided ClinVar Detail
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) AND Cardiac arrhythmia ClinVar Detail
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) AND SCN5A-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET 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
rs137854609 dbSNP
Genome
hg38
Position
chr3:38,581,170-38,581,170
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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