rs11539445
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| 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 |
| Reference | GRCh38 38.1/142 |
| Chromosome | 12 |
| Position | 32755303 |
| Gene | YARS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11539445 |
| dbSNP (classic) | rs11539445 |
| ClinGen | rs11539445 |
| ebi | rs11539445 |
| HLI | rs11539445 |
| Exac | rs11539445 |
| Gnomad | rs11539445 |
| Varsome | rs11539445 |
| LitVar | rs11539445 |
| Map | rs11539445 |
| PheGenI | rs11539445 |
| Biobank | rs11539445 |
| 1000 genomes | rs11539445 |
| hgdp | rs11539445 |
| ensembl | rs11539445 |
| geneview | rs11539445 |
| scholar | rs11539445 |
| rs11539445 | |
| pharmgkb | rs11539445 |
| gwascentral | rs11539445 |
| openSNP | rs11539445 |
| 23andMe | rs11539445 |
| SNPshot | rs11539445 |
| SNPdbe | rs11539445 |
| MSV3d | rs11539445 |
| GWAS Ctlg | rs11539445 |
| Max Magnitude | 6 |
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 24344687
] 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;A) Rs11539445(T;T) |
| Alt | Rs11539445(A;A) Rs11539445(T;T) |
| Reference | Rs11539445(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis Mitochondrial myopathy and sideroblastic anemia Myopathy |
| Variation | info |
| Gene | YARS2 |
| CLNDBN | Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis Mitochondrial myopathy and sideroblastic anemia Myopathy, lactic acidosis, and sideroblastic anemia 2 |
| Reversed | 1 |
| HGVS | NC_000012.11:g.32908237C>A; NC_000012.11:g.32908237C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000280875.1, RCV000377688.1, RCV000088672.3, |
