NM_003002.3(SDHD):c.112C>T (p.Arg38Ter) 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:
RCV000007297.2

Allele description [Variation Report for NM_003002.3(SDHD):c.112C>T (p.Arg38Ter)]

NM_003002.3(SDHD):c.112C>T (p.Arg38Ter)

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.112C>T (p.Arg38Ter)
HGVS:
  • NC_000011.10:g.112087916C>T
  • NG_012337.3:g.6070C>T
  • NM_001276504.1:c.53-951C>T
  • NM_003002.3:c.112C>T
  • NP_002993.1:p.Arg38Ter
  • NC_000011.9:g.111958640C>T
  • NG_012337.2:g.6070C>T
  • NM_003002.1:c.112C>T
  • NM_003002.2:c.112C>T
  • NR_077060.1:n.196C>T
Protein change:
R38*; ARG38TER
Links:
OMIM: 602690.0002; dbSNP: 80338843
NCBI 1000 Genomes Browser:
rs80338843
Molecular consequence:
  • NM_001276504.1:c.53-951C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_077060.1:n.196C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_003002.3:c.112C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000027493OMIMno assertion criteria providedPathogenic
(May 9, 2002)
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

Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

Gimm O, Armanios M, Dziema H, Neumann HP, Eng C.

Cancer Res. 2000 Dec 15;60(24):6822-5.

PubMed [citation]
PMID:
11156372
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000027493.1

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

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 an arg38-to-ter (R38X) substitution within the mitochondrial signal peptide.

Gimm et al. (2000) identified the R38X mutation in a 33-year-old woman with 2 extraadrenal pheochromocytomas, 1 intraabdominal and 1 intrathoracic.

In the germlines of 2 unrelated patients with sporadic pheochromocytoma (171300), Neumann et al. (2002) identified the R38X substitution, resulting from a 112C-T transition in exon 2 of the SDHD gene. 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: Aug 29, 2016