chr3:38581002:C>T Detail (hg38) (SCN5A, LOC110121269)

Information

Genome

Assembly Position
hg19 chr3:38,622,493-38,622,493 View the variant detail on this assembly version.
hg38 chr3:38,581,002-38,581,002

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.3157G>A NP_000326.2:p.Glu1053Lys
NM_198056.2:c.3157G>A NP_932173.1:p.Glu1053Lys
NM_001099404.1:c.3157G>A NP_001092874.1:p.Glu1053Lys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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
COSMIC COSM1537938 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic sick sinus syndrome germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2008-04-15 no assertion criteria provided Brugada syndrome 1 germline Detail
Pathogenic 2008-04-15 no assertion criteria provided Atrial fibrillation, familial, 10 germline Detail
not provided no assertion provided Congenital long QT syndrome germline Detail
Uncertain significance 2022-10-07 criteria provided, single submitter Brugada syndrome germline Detail
Likely pathogenic 2018-11-21 criteria provided, single submitter long QT syndrome 3 unknown Detail
Uncertain significance 2022-11-28 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2023-01-27 criteria provided, single submitter Cardiac arrhythmia germline Detail
Uncertain significance 2023-09-15 criteria provided, single submitter germline Detail
Uncertain significance 2024-03-18 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.130 Congenital long QT syndrome NA CLINVAR Detail
0.240 Atrial fibrillation, familial, 10 NA CLINVAR Detail
0.837 Brugada Syndrome (disorder) Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and ... BeFree 15579534 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) AND Brugada syndrome 1 ClinVar Detail
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) AND Atrial fibrillation, familial, 10 ClinVar Detail
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) AND Congenital long QT syndrome ClinVar Detail
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) AND Brugada syndrome ClinVar Detail
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) AND Long QT syndrome 3 ClinVar Detail
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) AND not provided ClinVar Detail
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) AND Cardiac arrhythmia ClinVar Detail
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) AND Cardiovascular phenotype ClinVar Detail
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) AND not specified ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5... 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
rs137854617 dbSNP
Genome
hg38
Position
chr3:38,581,002-38,581,002
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8602
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)
120162
Allele Counts in All Race (ExAC)
12
Heterozygous Counts in All Race (ExAC)
12
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.98651820042942E-5
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