chr3:38645249:C>T Detail (hg19) (SCN5A)

Information

Genome

Assembly Position
hg19 chr3:38,645,249-38,645,249
hg38 chr3:38,603,758-38,603,758 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.1844G>A NP_000326.2:p.Gly615Glu
NM_198056.2:c.1844G>A NP_932173.1:p.Gly615Glu
NM_001099404.1:c.1844G>A NP_001092874.1:p.Gly615Glu
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
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 2013-06-24 criteria provided, single submitter Long QT syndrome, drug-associated germline unknown Detail
Uncertain significance 2021-08-16 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance 2022-11-01 criteria provided, single submitter Brugada syndrome germline Detail
Pathogenic 2015-03-27 no assertion criteria provided unknown Detail
Pathogenic 2015-03-28 no assertion criteria provided unknown Detail
Uncertain significance 2017-04-06 criteria provided, single submitter long QT syndrome 3 unknown Detail
Uncertain significance 2023-08-25 criteria provided, single submitter germline Detail
Uncertain significance 2023-05-15 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2022-12-21 criteria provided, single submitter Cardiac arrhythmia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 long QT syndrome 3 Allelic variants in long-QT disease genes in patients with drug-associated torsa... UNIPROT 11997281 Detail
0.837 Brugada Syndrome (disorder) Allelic variants in long-QT disease genes in patients with drug-associated torsa... UNIPROT 11997281 Detail
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
0.837 Brugada Syndrome (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND Congenital long QT syndrome ClinVar Detail
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND Long QT syndrome, drug-associated ClinVar Detail
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND not specified ClinVar Detail
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND Brugada syndrome ClinVar Detail
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND Death in infancy ClinVar Detail
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND Death in early adulthood ClinVar Detail
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND Long QT syndrome 3 ClinVar Detail
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND Cardiovascular phenotype ClinVar Detail
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND not provided ClinVar Detail
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) AND Cardiac arrhythmia ClinVar Detail
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. DisGeNET Detail
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. DisGeNET 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

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
rs12720452 dbSNP
Genome
hg19
Position
chr3:38,645,249-38,645,249
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8480
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)
108674
Allele Counts in All Race (ExAC)
25
Heterozygous Counts in All Race (ExAC)
25
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.3004582512836557E-4
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