chr3:38647444:C>T Detail (hg19) (SCN5A)

Information

Genome

Assembly Position
hg19 chr3:38,647,444-38,647,444
hg38 chr3:38,605,953-38,605,953 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.1336G>A NP_000326.2:p.Glu446Lys
NM_198056.2:c.1336G>A NP_932173.1:p.Glu446Lys
NM_001099404.1:c.1336G>A NP_001092874.1:p.Glu446Lys
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
COSMIC COSM3593450 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2018-04-05 criteria provided, multiple submitters, no conflicts Primary dilated cardiomyopathy germline unknown Detail
Likely benign 2020-12-16 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2022-05-09 criteria provided, single submitter germline Detail
Conflicting interpretations of pathogenicity 2024-04-04 criteria provided, conflicting interpretations Brugada syndrome 1 germline unknown Detail
Likely benign 2019-01-31 criteria provided, single submitter Progressive familial heart block, type 1A germline Detail
Likely benign 2019-01-31 criteria provided, single submitter dilated cardiomyopathy 1E germline Detail
Uncertain significance 2019-01-31 criteria provided, single submitter Ventricular fibrillation, paroxysmal familial, type 1 germline Detail
Benign 2019-01-31 criteria provided, single submitter Sick sinus syndrome 1 germline Detail
Likely benign 2018-10-20 criteria provided, single submitter Cardiac arrhythmia germline Detail
Benign Likely benign 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.133 Cardiomyopathy, Dilated NA CLINVAR Detail
0.248 Torsades de pointes Two of the 13 patients (15%) who presented with QT prolongation and TdP were fou... BeFree 22338672 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND Primary dilated cardiomyopathy ClinVar Detail
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND not specified ClinVar Detail
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND Cardiovascular phenotype ClinVar Detail
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND Brugada syndrome 1 ClinVar Detail
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND Progressive familial heart block, type 1A ClinVar Detail
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND Dilated cardiomyopathy 1E ClinVar Detail
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND Ventricular fibrillation, paroxysmal familial, type 1 ClinVar Detail
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND Sick sinus syndrome 1 ClinVar Detail
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND Cardiac arrhythmia ClinVar Detail
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) AND not provided ClinVar Detail
NA DisGeNET Detail
Two of the 13 patients (15%) who presented with QT prolongation and TdP were found to carry long QT ... 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
rs199473339 dbSNP
Genome
hg19
Position
chr3:38,647,444-38,647,444
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8550
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)
113512
Allele Counts in All Race (ExAC)
82
Heterozygous Counts in All Race (ExAC)
82
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.223905842554091E-4
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