NM_003002.3(SDHD):c.129G>A (p.Trp43Ter) AND Paragangliomas 1

Clinical significance:Pathogenic (Last evaluated: May 1, 2008)

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:
RCV000007322.2

Allele description [Variation Report for NM_003002.3(SDHD):c.129G>A (p.Trp43Ter)]

NM_003002.3(SDHD):c.129G>A (p.Trp43Ter)

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.129G>A (p.Trp43Ter)
HGVS:
  • NC_000011.10:g.112087933G>A
  • NG_012337.3:g.6087G>A
  • NM_001276504.1:c.53-934G>A
  • NM_003002.3:c.129G>A
  • NP_002993.1:p.Trp43Ter
  • NC_000011.9:g.111958657G>A
  • NG_012337.2:g.6087G>A
  • NM_003002.2:c.129G>A
  • NR_077060.1:n.213G>A
Protein change:
W43*; TRP43TER
Links:
OMIM: 602690.0023; dbSNP: 104894308
NCBI 1000 Genomes Browser:
rs104894308
Molecular consequence:
  • NM_001276504.1:c.53-934G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_077060.1:n.213G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_003002.3:c.129G>A - 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
Age of onset:
Childhood
Prevalence:
1-9 / 1 000 000 29072

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000027520OMIMno assertion criteria providedPathogenic
(May 1, 2008)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

Cascon A, Ruiz-Llorente S, Cebrian A, Telleria D, Rivero JC, Diez JJ, Lopez-Ibarra PJ, Jaunsolo MA, Benitez J, Robledo M.

Eur J Hum Genet. 2002 Aug;10(8):457-61.

PubMed [citation]
PMID:
12111639

Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.

Pigny P, Vincent A, Cardot Bauters C, Bertrand M, de Montpreville VT, Crepin M, Porchet N, Caron P.

J Clin Endocrinol Metab. 2008 May;93(5):1609-15. doi: 10.1210/jc.2007-1989. Epub 2008 Jan 22.

PubMed [citation]
PMID:
18211978

Details of each submission

From OMIM, SCV000027520.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a patient with paraganglioma (168000) and a family history of pheochromocytoma, Cascon et al. (2002) identified a 129G-A transition in exon 2 of the SDHD gene, resulting in a trp43-to-ter (W43X) substitution and a truncated protein of 43 amino acids.

Pigny et al. (2008) reported a family with maternal transmission of the W43X mutation in the third generation. A boy received the mutation from his mother and developed a glomus tympanicum paraganglioma at 11 years of age. He shared only the 11q23 haplotype with the other affected members of the family. Methylation analysis of the differentially methylated region upstream of the maternally expressed H19 gene, mapped to 11p15, showed that the seventh CTCF binding site was hypermethylated in the germline of the affected boy, suggesting a gain of imprinting. The authors concluded that maternal transmission of a SDHD-linked paraganglioma, even if a rare event, can occur. The authors proposed that children who inherit a pathogenic mutation from their mother should be considered at risk for paraganglioma.

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

Last Updated: Apr 7, 2017