NM_003000.2(SDHB):c.716_719delCTCT (p.Ser239Tyrfs) AND Pheochromocytoma

Clinical significance:Pathogenic (Last evaluated: Jul 19, 2007)

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:
RCV000013622.24

Allele description [Variation Report for NM_003000.2(SDHB):c.716_719delCTCT (p.Ser239Tyrfs)]

NM_003000.2(SDHB):c.716_719delCTCT (p.Ser239Tyrfs)

Gene:
SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_003000.2(SDHB):c.716_719delCTCT (p.Ser239Tyrfs)
HGVS:
  • NC_000001.11:g.17022654_17022657delAGAG
  • NG_012340.1:g.36514_36517delCTCT
  • NM_003000.2:c.716_719delCTCT
  • NP_002991.2:p.Ser239Tyrfs
  • LRG_316t1:c.716_719delCTCT
  • LRG_316:g.36514_36517delCTCT
  • LRG_316p1:p.Ser239Tyrfs
  • NC_000001.10:g.17349149_17349152delAGAG
  • p.S239Yfs*8
Note:
NCBI staff reviewed the sequence information reported in PubMed 14685938 Fig. 2B to determine the location of this allele on the current reference sequence.
Links:
OMIM: 185470.0005; dbSNP: 587781266
NCBI 1000 Genomes Browser:
rs587781266
Molecular consequence:
  • NM_003000.2:c.716_719delCTCT - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033869OMIMno assertion criteria providedPathogenic
(Jul 19, 2007)
germlineliterature only

PubMed (2)
[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

Somatic SDHB mutation in an extraadrenal pheochromocytoma.

van Nederveen FH, Korpershoek E, Lenders JW, de Krijger RR, Dinjens WN.

N Engl J Med. 2007 Jul 19;357(3):306-8. No abstract available.

PubMed [citation]
PMID:
17634472

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, SCV000033869.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Among 16 probands with pheochromocytoma/paragangliomas-4 (PGL4; 115310), Vanharanta et al. (2004) found 1 family with an 847-850delTCTC germline mutation in which 2 members had renal cell carcinoma (see 144700) of solid histology, at ages 24 and 26 years. Both also had paraganglioma. Tumor tissue from the RCCs showed loss of the remaining wildtype allele.

Neumann et al. (2002) identified the 847delTCTC mutation in the germlines of 2 unrelated patients with sporadic pheochromocytoma (see 171300). 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: May 5, 2017