Have questions? Visit https://www.reddit.com/r/SNPedia

rs45547231

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs45547231(C;T)
Make rs45547231(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position47448165
GeneRAPSN
is asnp
is mentioned by
dbSNPrs45547231
ebirs45547231
HLIrs45547231
Exacrs45547231
Varsomers45547231
Maprs45547231
PheGenIrs45547231
hapmaprs45547231
1000 genomesrs45547231
hgdprs45547231
ensemblrs45547231
gopubmedrs45547231
geneviewrs45547231
scholarrs45547231
googlers45547231
pharmgkbrs45547231
gwascentralrs45547231
openSNPrs45547231
23andMers45547231
23andMe allrs45547231
SNP Nexus

SNPshotrs45547231
SNPdbers45547231
MSV3drs45547231
GWAS Ctlgrs45547231
Max Magnitude0

rs45547231, also known as c.193-15C>A, is an intronic variant in the RAPSN gene on chromosome 11.

One 2006 publication concludes based on patient and functional data that this variant is a splice mutation, which when combined with another RAPSN mutation, can lead to the recessively inherited condition known as congenital myasthenic syndrome.[PMID 16931511] This information is reflected in ClinVar, which lists this variant as pathogenic (albeit in an unreviewed status).

The variant appears to be too common to be causative though. In ExAC, it was counted 13149 times out of 115732 alleles, leading to a MAF of 0.11, and other databases generally agree with a MAF of up to 0.15.

If you are aware of additional evidence concerning the potential pathogenicity of this variant, please let us know.

23andMe refers to a SNP at this position as i5001397, however, they indicate it assays an A and a C (as represented on the plus strand). Since neither A nor C is the major allele, which would be a G as represented on the plus strand, it's unclear if this is a technical and/or database error of some sort.

ClinVar
Risk rs45547231(T;T)
Alt rs45547231(T;T)
Reference rs45547231(C;C)
Significance Pathogenic
Disease Myasthenic syndrome
Variation info
Gene RAPSN
CLNDBN Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
Reversed 1
HGVS NC_000011.9:g.47469717G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008519.4,