chr3:38579416:G>A Detail (hg38) (SCN5A, LOC110121269)

Information

Genome

Assembly Position
hg19 chr3:38,620,907-38,620,907 View the variant detail on this assembly version.
hg38 chr3:38,579,416-38,579,416

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.3308C>T NP_000326.2:p.Ser1103Phe
NM_198056.2:c.3308C>T NP_932173.1:p.Ser1103Phe
NM_001099404.1:c.3308C>T NP_001092874.1:p.Ser1103Phe
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 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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2019-06-23 criteria provided, single submitter not provided germline Detail
Uncertain significance 2023-09-17 criteria provided, multiple submitters, no conflicts Cardiac arrhythmia germline Detail
Uncertain significance 2022-07-20 criteria provided, single submitter Brugada syndrome germline Detail
Uncertain significance 2021-09-27 criteria provided, single submitter Progressive familial heart block, type 1A,long QT syndrome 3,sudden infant death syndrome,Brugada syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Sick sinus syndrome 1 unknown Detail
Uncertain significance 2021-09-27 criteria provided, single submitter Progressive familial heart block, type 1A,long QT syndrome 3,sudden infant death syndrome,Brugada syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Sick sinus syndrome 1 unknown Detail
Uncertain significance 2021-09-27 criteria provided, single submitter Progressive familial heart block, type 1A,long QT syndrome 3,sudden infant death syndrome,Brugada syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Sick sinus syndrome 1 unknown Detail
Uncertain significance 2021-09-27 criteria provided, single submitter Progressive familial heart block, type 1A,long QT syndrome 3,sudden infant death syndrome,Brugada syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Sick sinus syndrome 1 unknown Detail
Uncertain significance 2021-09-27 criteria provided, single submitter Progressive familial heart block, type 1A,long QT syndrome 3,sudden infant death syndrome,Brugada syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Sick sinus syndrome 1 unknown Detail
Uncertain significance 2021-09-27 criteria provided, single submitter Progressive familial heart block, type 1A,long QT syndrome 3,sudden infant death syndrome,Brugada syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Sick sinus syndrome 1 unknown Detail
Uncertain significance 2021-09-27 criteria provided, single submitter Progressive familial heart block, type 1A,long QT syndrome 3,sudden infant death syndrome,Brugada syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Sick sinus syndrome 1 unknown Detail
Uncertain significance 2021-09-27 criteria provided, single submitter Progressive familial heart block, type 1A,long QT syndrome 3,sudden infant death syndrome,Brugada syndrome 1,Atrial fibrillation, familial, 10,dilated cardiomyopathy 1E,Ventricular fibrillation, paroxysmal familial, type 1,Sick sinus syndrome 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.386 sudden infant death syndrome NA CLINVAR Detail
0.120 LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO (finding) NA CLINVAR Detail
0.386 sudden infant death syndrome Our data provide evidence that SCN5A allelic expression imbalance occurs in Afri... BeFree 20470418 Detail
0.003 congestive heart failure We hypothesized that the S1103Y cardiac sodium channel SCN5A variant influences ... BeFree 21498565 Detail
0.386 sudden infant death syndrome The common polymorphism SCN5A-S1103Y (∼13% allelic frequency in African American... BeFree 21385947 Detail
0.004 Syncope In this study, we define an SCN5A mutation, S1103Y, in a white family associated... BeFree 12471205 Detail
0.091 Heart failure We hypothesized that the S1103Y cardiac sodium channel SCN5A variant influences ... BeFree 21498565 Detail
<0.001 Acidosis, Respiratory Wild-type and mutant SCN5A channels both functioned typically under normal condi... BeFree 16453014 Detail
0.386 sudden infant death syndrome Targeted mutational analysis of exon 18 in SCN5A of the African-American SIDS co... BeFree 18452875 Detail
0.386 sudden infant death syndrome Wild-type and mutant SCN5A channels both functioned typically under normal condi... BeFree 16453014 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND not provided ClinVar Detail
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND Cardiac arrhythmia ClinVar Detail
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND Brugada syndrome ClinVar Detail
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Our data provide evidence that SCN5A allelic expression imbalance occurs in African-Americans hetero... DisGeNET Detail
We hypothesized that the S1103Y cardiac sodium channel SCN5A variant influences the propensity for v... DisGeNET Detail
The common polymorphism SCN5A-S1103Y (∼13% allelic frequency in African Americans) is a risk factor ... DisGeNET Detail
In this study, we define an SCN5A mutation, S1103Y, in a white family associated with syncope, ventr... DisGeNET Detail
We hypothesized that the S1103Y cardiac sodium channel SCN5A variant influences the propensity for v... DisGeNET Detail
Wild-type and mutant SCN5A channels both functioned typically under normal conditions in vitro, but ... DisGeNET Detail
Targeted mutational analysis of exon 18 in SCN5A of the African-American SIDS cohort (n = 71) reveal... DisGeNET Detail
Wild-type and mutant SCN5A channels both functioned typically under normal conditions in vitro, but ... 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
rs7626962 dbSNP
Genome
hg38
Position
chr3:38,579,416-38,579,416
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
7580
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)
102000
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.9607843137254903E-5
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