SDHC
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SDHC (HGNC:10682) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
succinate dehydrogenase complex subunit C
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
PGL3
Alias symbols
CYB560, cybL
%HI
47.07(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.05(Read more about gnomAD pLI score)
LOEUF
0.89(Read more about gnomAD LOEUF score)
Cytoband
1q23.3
Genomic Coordinates
GRCh37/hg19: chr1:161284171-161345130 NCBI Ensembl UCSC
GRCh38/hg38: chr1:161314381-161363206 NCBI Ensembl UCSC
MANE Select Transcript
NM_003001.5 ENST00000367975.7 (Read more about MANE Select)
Function
Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-32195
ClinGen Curation ID:
CCID:007815
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
10/13/2021

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 15342702
    Baysal et al. (2004) described a multi-generation family with head and neck paragangliomas. An approximately 8.37 kb deletion in the SDHC gene spanning two AluY elements including the exon 6 was detected. Both paternal and maternal inheritance was observed in this family. One individual harboring the deletion is asymptomatic at the age of 72.
  • PUBMED: 17667967
    Pasini et al. (2008) described germline SDHC variants in individuals with paragangliomas and gastrointestinal stromal tumors (GIST). The authors described one nonsense variant (c.43C>T; p. Arg15X) and one splice-site variant (IVS5+1G>A or c.405+1G>A). For the patient harboring c.43C>T(p.Arg15X) variant, the activity of succinate dehydrogenase dependent SCCR (succinate cytochrome C reductase) in the GIST tumor of the proband is significantly decreased but with normal COX (cytochrome oxidase) and QCCR (antimycin-sensitive decylubiquinol-cytochrome c reductase) activities. A loss of the wild type allele in tumor tissue was also detected. In the patient harboring c.405+1G>A variant, cDNA analysis revealed an absence of exon 5.
  • PUBMED: 29386252
    Andrews et al. (2018) studied 1832 individuals referred for genetic testing due to phaeochromocytoma/paraganglioma. 876 patients are positive for variants in either SDHB, SDHC or SDHD genes. 43 patients (probands=26) have a variant in the SDHC gene. 6 patients have copy number variants detected by MLPA, 5 of the 6 patients with copy number variants harbor the exon 6 deletion. Among 8 variants reported in SDHC gene, two are missense variants and six are loss-of-function variants (start codon, nonsense, splicing site and frame shift variants).
  • PUBMED: 19454582
    Burnichon et al.(2009) studied 445 patients with head and neck and/or thoracic-abdominal or pelvic paragangliomas. Genetic testing were carried out for SDHB, SDHC and SDHD genes using Sanger sequencing, quantitative multiplex PCR and MLPA. 16 patients were found to harbor variants in the SDHC gene. Variants include an intragenic deletion, an initiation codon variant and other non-sense variants. In addition, missense variants as well as a single amino acid duplication (c.253_255dup (p.Phe85dup)) were also reported.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)