NM_003000.2(SDHB):c.689G>T (p.Arg230Leu) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Mar 31, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000164275.3

Allele description [Variation Report for NM_003000.2(SDHB):c.689G>T (p.Arg230Leu)]

NM_003000.2(SDHB):c.689G>T (p.Arg230Leu)

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.689G>T (p.Arg230Leu)
HGVS:
  • NC_000001.11:g.17022684C>A
  • NG_012340.1:g.36487G>T
  • NM_003000.2:c.689G>T
  • NP_002991.2:p.Arg230Leu
  • LRG_316t1:c.689G>T
  • LRG_316:g.36487G>T
  • LRG_316p1:p.Arg230Leu
  • NC_000001.10:g.17349179C>A
  • p.R230L
Protein change:
R230L
Links:
dbSNP: rs587782604
NCBI 1000 Genomes Browser:
rs587782604
Molecular consequence:
  • NM_003000.2:c.689G>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
SCV000214900Ambry Geneticscriteria provided, single submitter
Pathogenic
(Mar 31, 2020)
germlineclinical testing

PubMed (5)
[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

Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas.

Klein RD, Jin L, Rumilla K, Young WF Jr, Lloyd RV.

Diagn Mol Pathol. 2008 Jun;17(2):94-100. doi: 10.1097/PDM.0b013e318150d67c.

PubMed [citation]
PMID:
18382370

Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

Neumann HP, Erlic Z, Boedeker CC, Rybicki LA, Robledo M, Hermsen M, Schiavi F, Falcioni M, Kwok P, Bauters C, Lampe K, Fischer M, Edelman E, Benn DE, Robinson BG, Wiegand S, Rasp G, Stuck BA, Hoffmann MM, Sullivan M, Sevilla MA, Weiss MM, et al.

Cancer Res. 2009 Apr 15;69(8):3650-6. doi: 10.1158/0008-5472.CAN-08-4057. Epub 2009 Apr 7.

PubMed [citation]
PMID:
19351833
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000214900.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (5)

Description

The p.R230L pathogenic mutation (also known as c.689G>T), located in coding exon 7 of the SDHB gene, results from a G to T substitution at nucleotide position 689. The arginine at codon 230 is replaced by leucine, an amino acid with dissimilar properties. This variant has been described in multiple unrelated individuals with extra-adrenal paragangliomas (Neumann HP et al. Cancer Res. 2009 Apr; 69(8):3650-6; Klein RD et al. Diagn. Mol. Pathol. 2008 Jun; 17(2):94-100; Jasperson KW et al. Fam. Cancer. 2013 Aug; Michałowska I et al. Neuroendocrinology. 2015 ; 101(4):321-30; Pandit R et al. Eur. J. Endocrinol. 2016 Oct;175:311-23). In addition, two well described disease-causing mutations, p.R230H and p.R230C, have been identified at 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: Oct 8, 2021

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