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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
10/13/2021
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- paragangliomas 3 Monarch
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)