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rs17215500

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 LQT1 form of Long QT syndrome
(T;T) 7.5 LQT1 form of Long QT syndrome; Jervell and Lange-Nielsen syndrome
ReferenceGRCh38 38.1/141
Chromosome11
Position2768881
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs17215500
dbSNP (old)rs17215500
ClinGenrs17215500
ebirs17215500
HLIrs17215500
Exacrs17215500
Gnomadrs17215500
Varsomers17215500
Maprs17215500
PheGenIrs17215500
Biobankrs17215500
1000 genomesrs17215500
hgdprs17215500
ensemblrs17215500
gopubmedrs17215500
geneviewrs17215500
scholarrs17215500
googlers17215500
pharmgkbrs17215500
gwascentralrs17215500
openSNPrs17215500
23andMers17215500
23andMe allrs17215500
SNP Nexus

SNPshotrs17215500
SNPdbers17215500
MSV3drs17215500
GWAS Ctlgrs17215500
StatusDeleted
Max Magnitude7.5

rs17215500 represents two variants in the KCNQ1 gene on chromosome 11; a c.1552C>T change (also known as p.Arg518Ter or R518X), and a c.1552C>G change (also known as p.Arg518Gly or R518G).

The c.1552C>G variant is reported as a variant of unknown significance in ClinVar; although it is very rare and has only been reported in several individuals with Long QT syndrome type 1, the available evidence is not considered sufficient to conclude if it is disease-causing.

The c.1552C>T variant, on the other hand, is considered pathogenic for Long QT syndrome as either a dominant or perhaps recessive mutation, and, for Jervell and Lange-Nielsen syndrome, a form of Long QT syndrome that is inherited recessively and associated with hearing loss from birth. In the absence of other pathogenic KCNQ1 gene mutations, the c.1552C>T mutation results in variable expressivity and may have reduced penetrance, depending on other genetic and environmental factors according to ClinVar.

23andMe name for the c.1552C>T variant: i3000206

OMIM607542
DescLONG QT SYNDROME 1, RECESSIVE
Variant0020
Relatedalso
ClinVar
Risk rs17215500(G;G) Rs17215500(T;T)
Alt rs17215500(G;G) Rs17215500(T;T)
Reference Rs17215500(C;C)
Significance Other
Disease Long QT syndrome Congenital long QT syndrome Long QT syndrome 1 not provided Cardiovascular phenotype
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome Congenital long QT syndrome Long QT syndrome 1, recessive not provided Cardiovascular phenotype
Reversed 0
HGVS NC_000011.9:g.2790111C>G; NC_000011.9:g.2790111C>T
CLNSRC UniProtKB (protein) OMIM Allelic Variant
CLNACC RCV000045995.3, RCV000057592.3, RCV000003279.3, RCV000148548.3, RCV000182196.4, RCV000251958.1,


[PMID 18852891OA-icon.png] Distribution and effects of nonsense polymorphisms in human genes.


[PMID 16414944] Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.