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rs63751243

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 4 Likely miscall by 23andMe; otherwise, possible frontotemporal dementia mutation
(C;C) 0 common in clinvar


Make rs63751243(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position44349190
GeneGRN
is asnp
is mentioned by
dbSNPrs63751243
ClinGenrs63751243
ebirs63751243
HLIrs63751243
Exacrs63751243
Varsomers63751243
Maprs63751243
PheGenIrs63751243
hapmaprs63751243
1000 genomesrs63751243
hgdprs63751243
ensemblrs63751243
gopubmedrs63751243
geneviewrs63751243
scholarrs63751243
googlers63751243
pharmgkbrs63751243
gwascentralrs63751243
openSNPrs63751243
23andMers63751243
23andMe allrs63751243
SNP Nexus

SNPshotrs63751243
SNPdbers63751243
MSV3drs63751243
GWAS Ctlgrs63751243
Max Magnitude4

rs63751243, also known as c.26C>A, p.Ala9Asp and A9D, represents a relatively rare mutation in the GRN gene on chromosome 17.

OMIM reports the rs63751243(A) allele as representing a dominantly inherited mutation associated with ubiquitin-positive frontotemporal lobar degeneration. ClinVar cites OMIM but lacks an actual statement as to pathogenicity for unknown reasons.

Among Promethease users, the rare allele (i.e. the heterozygous genotype) is seen in a bit under 1 in 1000 people, primarily in reports from genotyped 23andMe customers. In the ExAc sequencing database, the C>T change was seen in less than 1 in 60,000 people, and the C>A change was seen zero times. The significantly higher (>60x) rate of calls for this mutation in 23andMe customers indicates it is a mutation prone to be miscalled on the 23andMe test, and any putatively positive results for this clinically significant mutation should be questioned and tested with a clinically valid test.

[PMID 23596077OA-icon.png] Three rs63751243(A;C) behavioral variant frontotemporal dementia patients were evaluated clinically and were found to exhibit aphasia, extrapyramidal features, and, notably, amyotrophic lateral sclerosis.

OMIM138945
Desc
Variant0008
Relatedalso


ClinVar
Risk rs63751243(A;A) rs63751243(T;T)
Alt rs63751243(A;A) rs63751243(T;T)
Reference Rs63751243(C;C)
Significance Pathogenic
Disease Frontotemporal dementia not provided
Variation info
Gene GRN
CLNDBN Frontotemporal dementia, ubiquitin-positive not provided
Reversed 0
HGVS NC_000017.10:g.42426558C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017386.28, RCV000084421.1,