chr3:38630420:C>T Detail (hg38) (SCN5A)

Information

Genome

Assembly Position
hg19 chr3:38,671,911-38,671,911 View the variant detail on this assembly version.
hg38 chr3:38,630,420-38,630,420

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.283G>A NP_000326.2:p.Val95Ile
NM_198056.2:c.283G>A NP_932173.1:p.Val95Ile
NM_001099404.1:c.283G>A NP_001092874.1:p.Val95Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 tgv12114890 TogoVar
COSMIC COSM2986872 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2022-09-01 criteria provided, single submitter Brugada syndrome germline Detail
Likely pathogenic 2013-11-07 criteria provided, single submitter not provided germline Detail
Uncertain significance 2017-01-10 criteria provided, single submitter not specified germline Detail
Uncertain significance 2019-05-28 criteria provided, single submitter Brugada syndrome 1 unknown Detail
Uncertain significance 2023-11-02 criteria provided, multiple submitters, no conflicts Cardiac arrhythmia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.837 Brugada Syndrome (disorder) NA CLINVAR Detail
0.837 Brugada Syndrome (disorder) Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated i... BeFree 24529773 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) AND Brugada syndrome ClinVar Detail
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) AND not provided ClinVar Detail
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) AND not specified ClinVar Detail
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) AND Brugada syndrome 1 ClinVar Detail
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) AND Cardiac arrhythmia ClinVar Detail
NA DisGeNET Detail
Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS. 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
rs199473054 dbSNP
Genome
hg38
Position
chr3:38,630,420-38,630,420
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs199473054
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8626
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)
120748
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
3.3126842680624107E-5
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