rs11539445
A SNP in the YARS2 gene on chromosome 12. Its most notable genotype is T;T: Mitochondrial respiratory chain (RC) disorder allele
- Gene
- YARS2
- Location
- Chr 1232,755,303 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableBadMitochondrial respiratory chain (RC) disorder allele
- C;TBadcarrier of a mitochondrial respiratory chain (RC) disorder allele
- C;CGoodcommon in clinvar
- A;CGoodlikely to be benign
- A;AGoodlikely to be benign
SNPedia records rs11539445 on the minus strand: (A;A), (A;G), (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Notes
From SNPedia
Show notes, about 220 words
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. 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).
T;T
This genotype is predicted to lead to a mitochondrial respiratory chain (RC) disorder known as Myopathy, Lactic Acidosis, Sideroblastic Anaemia (MLASA). See further discussion at rs11539445.
C;T
Unless inherited along with a different defective allele in the same gene, this genotype indicates being an unaffected carrier of one defective allele reported to lead to a mitochondrial respiratory chain (RC) disorder known as Myopathy, Lactic Acidosis, Sideroblastic Anaemia (MLASA). See further discussion at rs11539445.
A;C
see discussion at rs11539445
A;A
see discussion at rs11539445
Source and license
Adapted from rs11539445 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.