NM_003001.5(SDHC):c.439C>T (p.Gln147Ter) AND none provided

Clinical significance:Likely pathogenic (Last evaluated: Feb 27, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001289819.1

Allele description [Variation Report for NM_003001.5(SDHC):c.439C>T (p.Gln147Ter)]

NM_003001.5(SDHC):c.439C>T (p.Gln147Ter)

Gene:
SDHC:succinate dehydrogenase complex subunit C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_003001.5(SDHC):c.439C>T (p.Gln147Ter)
HGVS:
  • NC_000001.11:g.161362362C>T
  • NG_012767.1:g.52987C>T
  • NM_001035511.2:c.275C>T
  • NM_001035512.2:c.337C>T
  • NM_001035513.2:c.280C>T
  • NM_001278172.2:c.173C>T
  • NM_003001.5:c.439C>TMANE SELECT
  • NP_001030588.1:p.Pro92Leu
  • NP_001030589.1:p.Gln113Ter
  • NP_001030590.1:p.Gln94Ter
  • NP_001265101.1:p.Pro58Leu
  • NP_002992.1:p.Gln147Ter
  • LRG_317:g.52987C>T
  • NC_000001.10:g.161332152C>T
  • NR_103459.2:n.491C>T
Protein change:
P58L
Links:
Molecular consequence:
  • NM_001035511.2:c.275C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278172.2:c.173C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_103459.2:n.491C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001035512.2:c.337C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001035513.2:c.280C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003001.5:c.439C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001477812ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely pathogenic
(Feb 27, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001477812.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The SDHC c.439C>T; p.Gln147Ter variant is reported in the medical literature in an individual with paraganglioma (Schiavi 2005, Schiavi 2006). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant results in a premature termination codon in the last exon of the SDHC gene. While this may not lead to nonsense-mediated decay, it is expected to create a truncated SDHC protein. Based on available information, this variant is considered to be likely pathogenic. References: Schiavi F et al. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA. 2005 Oct 26;294(16):2057-63. Schiavi F et al. Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas. Ann Ny Acad Sci. 2006 1073: 190-197.

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

Last Updated: Jan 30, 2021

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