SDHB, 1-BP DEL, 725C AND Pheochromocytoma

Clinical significance:Pathogenic (Last evaluated: Mar 5, 2013)

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:
RCV000013618.23

Allele description [Variation Report for SDHB, 1-BP DEL, 725C]

SDHB, 1-BP DEL, 725C

Gene:
SDHB:succinate dehydrogenase complex, subunit B, iron sulfur (Ip) [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
1p36.1-p35
Preferred name:
SDHB, 1-BP DEL, 725C
HGVS:
    Nucleotide change:
    1-BP DEL, 725C
    Links:
    OMIM: 185470.0003

    Condition(s)

    Name:
    Pheochromocytoma (PHEO)
    Synonyms:
    Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; 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
    SCV000033865OMIMno assertion criteria providedPathogenic
    (Mar 5, 2013)
    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

    Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.

    Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Sk├Âldberg F, Husebye ES, Eng C, Maher ER.

    Am J Hum Genet. 2001 Jul;69(1):49-54. Epub 2001 Jun 12. Erratum in: Am J Hum Genet 2002 Feb;70(2):565.

    PubMed [citation]
    PMID:
    11404820
    PMCID:
    PMC1226047

    Details of each submission

    From OMIM, SCV000033865.1

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

    Description

    In a 55-year-old woman with a single sporadic adrenal pheochromocytoma (see 171300), Astuti et al. (2001) identified a heterozygous 1-bp deletion (725delC) in exon 6 of the SDHB gene in both blood and tumor tissue. The tumor DNA did not exhibit loss of heterozygosity for markers flanking SDHB. SDHB mutations were not identified in 23 other cases of sporadic pheochromocytomas.

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

    Last Updated: Jun 29, 2015