NM_003002.3(SDHD):c.106C>T (p.Gln36Ter) AND Paragangliomas 1

Clinical significance:Pathogenic (Last evaluated: Feb 4, 2000)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000007295.2

Allele description [Variation Report for NM_003002.3(SDHD):c.106C>T (p.Gln36Ter)]

NM_003002.3(SDHD):c.106C>T (p.Gln36Ter)

Gene:
SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.1
Genomic location:
Preferred name:
NM_003002.3(SDHD):c.106C>T (p.Gln36Ter)
HGVS:
  • NC_000011.10:g.112087910C>T
  • NG_012337.3:g.6064C>T
  • NM_001276504.1:c.52+951C>T
  • NM_003002.3:c.106C>T
  • NP_002993.1:p.Gln36Ter
  • NC_000011.9:g.111958634C>T
  • NG_012337.2:g.6064C>T
  • NM_003002.2:c.106C>T
  • NR_077060.1:n.190C>T
Protein change:
Q36*; GLN36TER
Links:
OMIM: 602690.0001; dbSNP: 104894303
NCBI 1000 Genomes Browser:
rs104894303
Molecular consequence:
  • NM_001276504.1:c.52+951C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_077060.1:n.190C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_003002.3:c.106C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Paragangliomas 1 (PGL1)
Synonyms:
CAROTID BODY TUMORS; PARAGANGLIOMA, CAROTID BODY; PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1
Identifiers:
MedGen: C1868633; Orphanet: 29072; OMIM: 168000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000027491OMIMno assertion criteria providedPathogenic
(Feb 4, 2000)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW 3rd, Cornelisse CJ, Devilee P, Devlin B.

Science. 2000 Feb 4;287(5454):848-51.

PubMed [citation]
PMID:
10657297

Details of each submission

From OMIM, SCV000027491.1

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

Description

In a family with autosomal dominant hereditary paragangliomas (168000), Baysal et al. (2000) identified a C-to-T transition in the SDHD gene, resulting in a glu36-to-ter (E36X) mutation within the mitochondrial signal peptide.

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

Last Updated: Sep 5, 2017