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NM_001035511.2(SDHC):c.*4656_*7660delinsGTCA AND Paragangliomas 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2004
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000007665.5

Allele description [Variation Report for NM_001035511.2(SDHC):c.*4656_*7660delinsGTCA]

NM_001035511.2(SDHC):c.*4656_*7660delinsGTCA

Genes:
CFAP126:cilia and flagella associated protein 126 [Gene - OMIM - HGNC]
SDHC:succinate dehydrogenase complex subunit C [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_001035511.2(SDHC):c.*4656_*7660delinsGTCA
HGVS:
  • NC_000001.11:g.161367196_161370200delinsGTCA
  • NC_000001.10:g.161336986_161339990delinsGTCA
Note:
NCBI staff established an HGVS expression for this allele from the trace in Figure 3 in the paper by Baysal et al., 2004 (PubMed 15342702).
Links:
OMIM: 602413.0003

Condition(s)

Name:
Paragangliomas 3 (PPGL3)
Synonyms:
Glomus tumors, familial, 3; SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 3); PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3
Identifiers:
MONDO: MONDO:0011544; MedGen: C1854336; Orphanet: 29072; OMIM: 605373

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027866OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 2004) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma.

Baysal BE, Willett-Brozick JE, Filho PA, Lawrence EC, Myers EN, Ferrell RE.

J Med Genet. 2004 Sep;41(9):703-9. No abstract available. Erratum in: J Med Genet. 2005 Jul;42(7):582.

PubMed [citation]
PMID:
15342702
PMCID:
PMC1735880

Details of each submission

From OMIM, SCV000027866.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a family with familial nonchromaffin paragangliomas (PPGL3; 605373) ascertained from an analysis of familial and isolated paraganglioma cases from 2 U.S. otolaryngology clinics, Baysal et al. (2004) identified an 8,372-bp deletion in the SDHC gene, which spanned 2 AluY elements and removed exon 6. The deletion caused PGL3 following both maternal and paternal transmissions in the pedigree and was also detected in an unrelated sporadic case who showed allele sharing with the familial cases at 7 polymorphic markers near SDHC, suggesting a common ancestral origin. These findings confirmed the role of SDHC in both familial and sporadic paragangliomas. The observation of both paternal and maternal disease transmission in PGL3, together with earlier findings, suggested that imprinted transmission in hereditary paraganglioma is restricted to SDHD (602690) among complex II genes.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 21, 2023