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rs11539445

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 6 Mitochondrial respiratory chain (RC) disorder allele
(A;G) 3 carrier of a mitochondrial respiratory chain (RC) disorder allele
(G;G) 0 common in clinvar
(G;T) 0 likely to be benign
(T;T) 0 likely to be benign
ReferenceGRCh38 38.1/142
Chromosome12
Position32755303
GeneYARS2
is asnp
is mentioned by
dbSNPrs11539445
ebirs11539445
HLIrs11539445
Exacrs11539445
Varsomers11539445
Maprs11539445
PheGenIrs11539445
hapmaprs11539445
1000 genomesrs11539445
hgdprs11539445
ensemblrs11539445
gopubmedrs11539445
geneviewrs11539445
scholarrs11539445
googlers11539445
pharmgkbrs11539445
gwascentralrs11539445
openSNPrs11539445
23andMers11539445
23andMe allrs11539445
SNP Nexus

SNPshotrs11539445
SNPdbers11539445
MSV3drs11539445
GWAS Ctlgrs11539445
Max Magnitude6

rs11539445, also known as c.572G>A, p.Gly191Asp and G191D, or c.572G>T, p.Gly191Val and G191V, as is a variant in the YARS2 gene on chromosome 12.

The minor allele rs11539445(T) is relatively common, with an ExAC database frequency of 0.1259, and over 1,000 homozygotes observed. This implies that G191V is a benign variation.

However, the minor allele rs11539445(A), encoding G191D, is reported to be pathogenic in OMIM, at least when inherited recessively, based on a 2013 study.[PMID 24344687OA-icon.png] Frequency data about this allele is not reported so far as we know, indicating it is likely to be extremely rare, and if the 2013 report holds up, is to be considered pathogenic (at least when inherited in two copies or as a compound heterozygote).


ClinVar
Risk rs11539445(A,T;A,T)
Alt rs11539445(A,T;A,T)
Reference rs11539445(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene YARS2
CLNDBN Myopathy, lactic acidosis, and sideroblastic anemia 2
Reversed 1
HGVS NC_000012.11:g.32908237C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000088672.3,