NM_003000.2(SDHB):c.395A>C (p.His132Pro) AND Paragangliomas 4

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:
RCV000013628.23

Allele description [Variation Report for NM_003000.2(SDHB):c.395A>C (p.His132Pro)]

NM_003000.2(SDHB):c.395A>C (p.His132Pro)

Gene:
SDHB:succinate dehydrogenase complex, subunit B, iron sulfur (Ip) [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_003000.2(SDHB):c.395A>C (p.His132Pro)
HGVS:
  • NC_000001.11:g.17028628T>G
  • NG_012340.1:g.30543A>C
  • NM_003000.2:c.395A>C
  • NP_002991.2:p.His132Pro
  • NC_000001.10:g.17355123T>G
Protein change:
H132P; HIS132PRO
Links:
OMIM: 185470.0010; dbSNP: 74315372
NCBI 1000 Genomes Browser:
rs74315372
Molecular consequence:
  • NM_003000.2:c.395A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Paragangliomas 4 (PGL4)
Synonyms:
CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS; Pheochromocytoma, extraadrenal and cervical paraganglioma; Paragangliomas, hereditary extraadrenal; See all synonyms [MedGen]
Identifiers:
MedGen: C1861848; Orphanet: 29072; OMIM: 115310
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
SCV000033875OMIMno 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

A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas.

Maier-Woelfle M, Brändle M, Komminoth P, Saremaslani P, Schmid S, Locher T, Heitz PU, Krull I, Galeazzi RL, Schmid C, Perren A.

J Clin Endocrinol Metab. 2004 Jan;89(1):362-7.

PubMed [citation]
PMID:
14715873

Details of each submission

From OMIM, SCV000033875.1

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

Description

By analysis of the germline DNA from 2 brothers and their mother with malignant extraadrenal abdominal paragangliomas (115310), Maier-Woelfle et al. (2004) identified heterozygosity for an A-to-C transversion in the SDHB gene, resulting in a his132-to-pro (H132P) substitution. The variant was absent in 160 control chromosomes.

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

Last Updated: Jun 4, 2015