SDHAF2 Chromosome 11
Succinate dehydrogenase complex assembly factor 2
Upload your DNA to see your personal genotypes for variants in SDHAF2.
What This Gene Does
This gene encodes a mitochondrial assembly factor needed for the flavination of a succinate dehydrogenase complex subunit (SDHA), which is required for activity of the succinate dehydrogenase complex. Mutations in this gene are associated with paraganglioma. [provided by RefSeq, May 2022]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
11q12.2
Ensembl
ENSG00000167985
Associated Conditions (7)
Hereditary pheochromocytoma and paraganglioma
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 2
SDHAF2-related disorder
Ovarian cancer
Glioma susceptibility 1
Clear cell carcinoma of kidney
Key Variants
RS1060499901
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS1237175697
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
Health Risk
RS1254052531
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
Health Risk
RS1328610836
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
Health Risk
RS1339037960
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
Health Risk
RS140920079
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 2
Health Risk
RS1445986287
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma/paraganglioma syndrome 2
Health Risk
RS1455092335
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS1456129845
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 2
Health Risk
RS145616631
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 2
Health Risk
RS148425779
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS149277592
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, SDHAF2-related disorder
Health Risk
All Variants (72)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS772177974 | Health Risk | Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS113560320 | Health Risk | Pathogenic | Pheochromocytoma/paraganglioma syndrome 2, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS1554984631 | Health Risk | Pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS1590764868 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2134892263 | Health Risk | Pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS2540124080 | Health Risk | Pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS2540124290 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2540124377 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2540124427 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2540124855 | Health Risk | Pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS2540124926 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS778397152 | Health Risk | Pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS1336819076 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma/paraganglioma syndrome 2, Hereditary cancer-predisposing syndrome |
| RS1344681005 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, SDHAF2-related disorder |
| RS2134892271 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS2540124889 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS750979204 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma/paraganglioma syndrome 2 |
| RS753554501 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 2 |
| RS761956866 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma/paraganglioma syndrome 2, Hereditary cancer-predisposing syndrome |
| RS766035180 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 2 |
| RS774508076 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS949388785 | Health Risk | Pathogenic/Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |