NM_003000.2(SDHB):c.299C>T (p.Ser100Phe) AND Pheochromocytoma

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2004)

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:
RCV000013629.26

Allele description [Variation Report for NM_003000.2(SDHB):c.299C>T (p.Ser100Phe)]

NM_003000.2(SDHB):c.299C>T (p.Ser100Phe)

Gene:
SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_003000.2(SDHB):c.299C>T (p.Ser100Phe)
HGVS:
  • NC_000001.11:g.17028724G>A
  • NG_012340.1:g.30447C>T
  • NM_003000.2:c.299C>T
  • NP_002991.2:p.Ser100Phe
  • LRG_316t1:c.299C>T
  • LRG_316:g.30447C>T
  • LRG_316p1:p.Ser100Phe
  • NC_000001.10:g.17355219G>A
  • P21912:p.Ser100Phe
Protein change:
S100F; SER100PHE
Links:
UniProtKB: P21912#VAR_037620; OMIM: 185470.0011; dbSNP: rs121917755
NCBI 1000 Genomes Browser:
rs121917755
Molecular consequence:
  • NM_003000.2:c.299C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pheochromocytoma
Synonyms:
Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008233; MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033876OMIMno assertion criteria providedPathogenic
(Jan 1, 2004)
somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.

Vanharanta S, Buchta M, McWhinney SR, Virta SK, Peçzkowska M, Morrison CD, Lehtonen R, Januszewicz A, Järvinen H, Juhola M, Mecklin JP, Pukkala E, Herva R, Kiuru M, Nupponen NN, Aaltonen LA, Neumann HP, Eng C.

Am J Hum Genet. 2004 Jan;74(1):153-9. Epub 2003 Dec 18.

PubMed [citation]
PMID:
14685938
PMCID:
PMC1181902

Details of each submission

From OMIM, SCV000033876.4

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

Description

In tumor tissue from a woman with sporadic extraadrenal pheochromocytoma (see 171300) in the bladder wall, van Nederveen et al. (2007) identified a heterozygous 299C-T transition in exon 4 of the SDHB gene, resulting in a ser100-to-phe (S100F) substitution. Comparative genomic hybridization and FISH analysis showed loss of heterozygosity of chromosome 1p in tumor tissue, indicating biallelic inactivation of the SDHB gene. There was absence of SDHB expression in tumor cells, indicating complete loss of SDHB function.

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

Last Updated: Nov 26, 2020

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