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rs36210423

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0.5 likely to be benign
(A;C) 0.5 likely to be benign
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome3
Position38603887
GeneSCN5A
is asnp
is mentioned by
dbSNPrs36210423
ebirs36210423
HLIrs36210423
Exacrs36210423
Varsomers36210423
Maprs36210423
PheGenIrs36210423
hapmaprs36210423
1000 genomesrs36210423
hgdprs36210423
ensemblrs36210423
gopubmedrs36210423
geneviewrs36210423
scholarrs36210423
googlers36210423
pharmgkbrs36210423
gwascentralrs36210423
openSNPrs36210423
23andMers36210423
23andMe allrs36210423
SNP Nexus

SNPshotrs36210423
SNPdbers36210423
MSV3drs36210423
GWAS Ctlgrs36210423
Max Magnitude0.5

rs36210423 is a variant in the SCN5A gene on chromosome 3. The major allele (on the minus strand) is C; all three possible minor alleles (A,G,T) have apparently been reported as occurring, according to dbSNP. The three minor alleles and their more common protein designations are:

  • c.1715C>A, Ala572Asp or A527D
  • c.1715C>T, Ala572Val or A572D
  • c.1715C>G, Ala572Gly or A572G

Most reports of pathogenicity (or the lack of it) focus on A572D, which was initially reported as a pathogenic (and dominant) mutation potentially leading to a mild form of long QT syndrome.[PMID 12820704]. Subsequent analyses by several groups have tended to conclude that all rs36210423 variants are likely to be benign.[PMID 22378279OA-icon.png]


ClinVar
Risk rs36210423(A,G,T;A,G,T)
Alt rs36210423(A,G,T;A,G,T)
Reference rs36210423(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome VENTRICULAR FIBRILLATION not specified Left ventricular noncompaction cardiomyopathy Cardiac arrest not provided Brugada syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL not specified Left ventricular noncompaction cardiomyopathy Cardiac arrest not provided Brugada syndrome
Reversed 1
HGVS NC_000003.11:g.38645378G>A; NC_000003.11:g.38645378G>T
CLNSRC ClinVar
CLNACC RCV000058448.2, RCV000058447.2, RCV000143951.2, RCV000151795.2, RCV000157480.1, RCV000157481.1, RCV000182906.1, RCV000230669.1,