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SDHB

Synonyms
CWS2, IP, MC2DN4, PGL4, SDH, SDH1, SDH2, SDHIP
External resources
Summary
Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
28
Likely pathogenic
5
VUS
1,922
Likely benign
311
Benign
688

Patient phenotypes

Proportions of phenotypes among 32 patients carrying pathogenic or likely pathogenic variants on SDHB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
84.4%
Abnormality of the endocrine system
65.6%
Neoplasm
65.6%
Abnormality of the musculoskeletal system
12.5%
Abnormality of the cardiovascular system
9.4%
Abnormality of the eye
9.4%
Growth abnormality
9.4%
Abnormality of limbs
6.3%
Abnormality of the digestive system
6.3%
Abnormality of head or neck
3.1%
Abnormality of the immune system
3.1%
Abnormality of the integument
3.1%
Abnormality of the respiratory system
3.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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