NM_003000.3(SDHB):c.688C>T (p.Arg230Cys) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Apr 10, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000164435.1

Allele description [Variation Report for NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)]

NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)

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_003000.3(SDHB):c.688C>T (p.Arg230Cys)
HGVS:
  • NC_000001.11:g.17022685G>A
  • NG_012340.1:g.36486C>T
  • NM_003000.3:c.688C>TMANE SELECT
  • NP_002991.2:p.Arg230Cys
  • NP_002991.2:p.Arg230Cys
  • LRG_316t1:c.688C>T
  • LRG_316:g.36486C>T
  • LRG_316p1:p.Arg230Cys
  • NC_000001.10:g.17349180G>A
  • NM_003000.2:c.688C>T
  • P21912:p.Arg230Cys
  • p.R230C
Protein change:
R230C
Links:
UniProtKB: P21912#VAR_054383; dbSNP: rs138996609
NCBI 1000 Genomes Browser:
rs138996609
Molecular consequence:
  • NM_003000.3:c.688C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000215074Ambry Geneticscriteria provided, single submitter
Pathogenic
(Apr 10, 2019)
germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, Khau Van Kien P, Corvol P, Plouin PF, Jeunemaitre X; COMETE Network..

Cancer Res. 2003 Sep 1;63(17):5615-21.

PubMed [citation]
PMID:
14500403

A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas.

Dahia PL, Ross KN, Wright ME, Hayashida CY, Santagata S, Barontini M, Kung AL, Sanso G, Powers JF, Tischler AS, Hodin R, Heitritter S, Moore F, Dluhy R, Sosa JA, Ocal IT, Benn DE, Marsh DJ, Robinson BG, Schneider K, Garber J, Arum SM, et al.

PLoS Genet. 2005 Jul;1(1):72-80. Epub 2005 Jul 25.

PubMed [citation]
PMID:
16103922
PMCID:
PMC1183527
See all PubMed Citations (8)

Details of each submission

From Ambry Genetics, SCV000215074.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (8)

Description

The p.R230C pathogenic mutation (also known as c.688C>T), located in coding exon 7 of the SDHB gene, results from a C to T substitution at nucleotide position 688. The arginine at codon 230 is replaced by cysteine, an amino acid with highly dissimilar properties. This pathogenic variant has been reported in numerous individuals diagnosed with pheochromocytomas and/or paragangliomas (Gimenez-Roqueplo AP et al. Cancer Res. 2003 Sep 1;63(17):5615-21; Dahia PL et al. PLoS Genet. 2005 Jul;1(1):72-80; Neumann HP et al. Cancer Res. 2009 Apr 15;69(8):3650-6; Sevilla MA et al. Otolaryngol Head Neck Surg. 2009 May;140(5):724-9; Burnichon N et al. J Clin Endocrinol Metab. 2009 Aug;94(8):2817-27; Yang C et al. FASEB J. 2012 Nov;26(11):4506-16; Andrews KA et al. J. Med. Genet. 2018 Jun;55:384-394). Additionally, two disease-causing variants, p.R230H and p.R230L, have been described in the same codon. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 4, 2021

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