NM_003002.3(SDHD):c.14G>A (p.Trp5Ter) AND Pheochromocytoma

Clinical significance:Pathogenic (Last evaluated: May 9, 2002)

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:
RCV000007325.2

Allele description [Variation Report for NM_003002.3(SDHD):c.14G>A (p.Trp5Ter)]

NM_003002.3(SDHD):c.14G>A (p.Trp5Ter)

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.14G>A (p.Trp5Ter)
HGVS:
  • NC_000011.10:g.112086921G>A
  • NG_012337.3:g.5075G>A
  • NM_003002.3:c.14G>A
  • NP_002993.1:p.Trp5Ter
  • NC_000011.9:g.111957645G>A
  • NG_012337.2:g.5075G>A
  • NM_003002.2:c.14G>A
  • NR_077060.1:n.98G>A
Protein change:
W5*; TRP5TER
Links:
OMIM: 602690.0026; dbSNP: 104894310
NCBI 1000 Genomes Browser:
rs104894310
Molecular consequence:
  • NR_077060.1:n.98G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_003002.3:c.14G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Pheochromocytoma
Synonyms:
Pheochromocytoma, somatic; MAX-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome; PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO; See all synonyms [MedGen]
Identifiers:
MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000027523OMIMno assertion criteria providedPathogenic
(May 9, 2002)
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

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

Details of each submission

From OMIM, SCV000027523.1

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

Description

In the germline of a patient with sporadic pheochromocytoma (171300), Neumann et al. (2002) identified a 14G-A transition in exon 1 of the SDHD gene, resulting in a trp5-to-ter (W5X) substitution. The mutation was not identified in 600 control chromosomes.

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

Last Updated: Apr 9, 2018