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rs201102461

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5 Familial Hypercholesterolemia (possible but uncertain)
(G;G) 0 common in clinvar


Make rs201102461(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11105250
GeneLDLR
is asnp
is mentioned by
dbSNPrs201102461
dbSNP (classic)rs201102461
ClinGenrs201102461
ebirs201102461
HLIrs201102461
Exacrs201102461
Gnomadrs201102461
Varsomers201102461
LitVarrs201102461
Maprs201102461
PheGenIrs201102461
Biobankrs201102461
1000 genomesrs201102461
hgdprs201102461
ensemblrs201102461
geneviewrs201102461
scholarrs201102461
googlers201102461
pharmgkbrs201102461
gwascentralrs201102461
openSNPrs201102461
23andMers201102461
23andMe allrs201102461
SNPshotrs201102461
SNPdbers201102461
MSV3drs201102461
GWAS Ctlgrs201102461
Max Magnitude5

aka c.344G>A (p.Arg115His)

There are conflicting opinions about whether rs201102461(A) is a FH-associated disease variant.

In ClinVar, a slight majority (three out of five) of submitters state that rs201102461 is pathogenic or likely pathogenic.

In the LDLR LOVD database, it is classified as disease-associated, and there are four FH patients listed with it.

And out of 9 theoretical programs tested, 6 predict that this variant is pathogenic (DANN, GERP, dbNSFP.FATHMM, MetaLR, MetaSVM and MutationTaster) while 3 don't.

Overall, the consensus seems to lean towards this variant being pathogenic, but there clearly is uncertainty about it, and even if it is pathogenic, it could have quite variable penetrance.


ClinVar
Risk rs201102461(A;A)
Alt rs201102461(A;A)
Reference Rs201102461(G;G)
Significance Other
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11215926G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000237176.2,