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 |
|---|---|---|---|
| RS1060499901 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS1237175697 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS1254052531 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS1328610836 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS1339037960 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS140920079 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 2 |
| RS1445986287 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma/paraganglioma syndrome 2 |
| RS1455092335 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS1456129845 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 2 |
| RS145616631 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 2 |
| RS148425779 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS149277592 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, SDHAF2-related disorder |
| RS150187184 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 2 |
| RS1554983610 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 2 |
| RS1590764751 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS1590764849 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS1590764905 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS1590765063 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS1861838658 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS1862017197 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS200911550 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma/paraganglioma syndrome 2 |
| RS2134892531 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS2540124016 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2540124759 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS2540132967 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS375280597 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 2 |
| RS377266355 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS535627239 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Ovarian cancer |
| RS552102107 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS747022200 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Ovarian cancer, Pheochromocytoma/paraganglioma syndrome 2 |
| RS752462796 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Ovarian cancer, Hereditary pheochromocytoma and paraganglioma |
| RS758154733 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS759472787 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS768048172 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 2 |
| RS769577154 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS770444026 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS775160119 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS775763888 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS778449586 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 2 |
| RS876658350 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS952830677 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 2 |
| RS1173121367 | Health Risk | Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS1590765145 | Health Risk | Likely pathogenic | — |
| RS1862009020 | Health Risk | Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 2, Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 2 |
| RS2134892557 | Health Risk | Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS2134892844 | Health Risk | Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 2, Pheochromocytoma/paraganglioma syndrome 2 |
| RS2540110841 | Health Risk | Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS2540133028 | Health Risk | Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 2, Pheochromocytoma/paraganglioma syndrome 2 |
| RS745989557 | Health Risk | Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Glioma susceptibility 1, Clear cell carcinoma of kidney |
| RS749527870 | Health Risk | Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |