NM_003000.2(SDHB):c.725G>A (p.Arg242His) AND Paragangliomas 4

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

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013619.22

Allele description [Variation Report for NM_003000.2(SDHB):c.725G>A (p.Arg242His)]

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.725G>A (p.Arg242His)
HGVS:
  • NC_000001.11:g.17022648C>T
  • NG_012340.1:g.36523G>A
  • NM_003000.2:c.725G>A
  • NP_002991.2:p.Arg242His
  • NC_000001.10:g.17349143C>T
  • p.R242H
Protein change:
R242H; ARG242HIS
Links:
OMIM: 185470.0004; dbSNP: 74315368
NCBI 1000 Genomes Browser:
rs74315368
Molecular consequence:
  • NM_003000.2:c.725G>A - 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 StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000033866OMIMPathogenic
(Mar 5, 2013)
unknownliterature only

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene.

Young AL, Baysal BE, Deb A, Young WF Jr.

J Clin Endocrinol Metab. 2002 Sep;87(9):4101-5.

PubMed [citation]
PMID:
12213855

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, SCV000033866.1

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

Description

In a man and his son, both of whom had metastatic catecholamine-secreting paragangliomas (115310), Young et al. (2002) identified a 725G-A transition in exon 7 of the SDHB gene, resulting in an arg242-to-his (R242H) substitution. Sequencing of the SDHB gene in the tumors did not reveal any somatic mutations or loss of heterozygosity of the remaining allele.

Neumann et al. (2002) identified the R242H substitution in the germline of a patient with sporadic pheochromocytoma (171300). The mutation was not identified in 600 control chromosomes.

Janeway et al. (2011) identified a germline R242H mutation in a 21-year-old patient with a sporadic gastrointestinal stromal tumor (GIST; 606764).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 18, 2014

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