NM_003002.3(SDHD):c.274G>T (p.Asp92Tyr) AND Pheochromocytoma

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2012)

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:
RCV000007306.2

Allele description [Variation Report for NM_003002.3(SDHD):c.274G>T (p.Asp92Tyr)]

NM_003002.3(SDHD):c.274G>T (p.Asp92Tyr)

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.274G>T (p.Asp92Tyr)
HGVS:
  • NC_000011.10:g.112088971G>T
  • NG_012337.3:g.7125G>T
  • NM_001276503.1:c.169+998G>T
  • NM_003002.3:c.274G>T
  • NP_002993.1:p.Asp92Tyr
  • NC_000011.9:g.111959695G>T
  • NG_012337.2:g.7125G>T
  • NM_003002.1:c.274G>T
  • NM_003002.2:c.274G>T
  • NR_077060.1:n.358G>T
  • O14521:p.Asp92Tyr
Protein change:
D92Y; ASP92TYR
Links:
UniProtKB: O14521#VAR_010039; OMIM: 602690.0004; dbSNP: 80338845
NCBI 1000 Genomes Browser:
rs80338845
Molecular consequence:
  • NM_001276503.1:c.169+998G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003002.3:c.274G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_077060.1:n.358G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Pheochromocytoma
Synonyms:
TMEM127-Related Pheochromocytoma; Pheochromocytoma, somatic; MAX-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome; See all synonyms [MedGen]
Identifiers:
MedGen: C0031511; Orphanet: 29072; OMIM: 171300
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
SCV000027503OMIMno assertion criteria providedPathogenic
(Mar 1, 2012)
germlineliterature only

PubMed (3)
[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

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

Germ-line mutations in nonsyndromic pheochromocytoma.

Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, et al.

N Engl J Med. 2002 May 9;346(19):1459-66.

PubMed [citation]
PMID:
12000816
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000027503.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

Baysal et al. (2000) identified the Dutch founder mutation in hereditary paraganglioma (168000), a G-to-T transversion in the SDHD gene, resulting in an asp92-to-tyr (D92Y) substitution. This residue is conserved in 4 eukaryotic multicellular organisms, including human.

Neumann et al. (2002) identified the D92Y mutation in the germline of a patient with sporadic pheochromocytoma (171300). The D92Y substitution resulted from a 274G-T transversion in exon 3 of the SDHD gene. The mutation was not identified in 600 control chromosomes.

Hensen et al. (2012) identified the D92Y mutation in almost 70% of Dutch paraganglioma/pheochromocytoma patients with a mutation in a succinate dehydrogenase gene. The dominance of SDHD mutations was unique to the Netherlands, contrasting with the higher prevalence of SDHB (185470) mutations found elsewhere.

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

Last Updated: Mar 18, 2017