NM_003000.2(SDHB):c.717dup (p.Leu240fs) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Nov 10, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000492377.1

Allele description [Variation Report for NM_003000.2(SDHB):c.717dup (p.Leu240fs)]

NM_003000.2(SDHB):c.717dup (p.Leu240fs)

Gene:
SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_003000.2(SDHB):c.717dup (p.Leu240fs)
HGVS:
  • NC_000001.11:g.17022656dup
  • NG_012340.1:g.36515dup
  • NM_003000.2:c.717dup
  • NP_002991.2:p.Leu240fs
  • LRG_316t1:c.717dup
  • LRG_316:g.36515dup
  • LRG_316p1:p.Leu240fs
  • NC_000001.10:g.17349151dup
  • NM_003000.2:c.717dupT
Protein change:
L240fs
Links:
dbSNP: rs1060503764
NCBI 1000 Genomes Browser:
rs1060503764
Molecular consequence:
  • NM_003000.2:c.717dup - frameshift variant - [Sequence Ontology: SO:0001589]
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
SCV000581212Ambry Geneticscriteria provided, single submitter
Pathogenic
(Nov 10, 2015)
germlineclinical testing

PubMed (3)
[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

Genetic testing in pheochromocytoma or functional paraganglioma.

Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac-de Paillerets B, Chabre O, Chamontin B, Delemer B, Giraud S, Murat A, Niccoli-Sire P, Richard S, Rohmer V, Sadoul JL, Strompf L, Schlumberger M, Bertagna X, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP.

J Clin Oncol. 2005 Dec 1;23(34):8812-8.

PubMed [citation]
PMID:
16314641

High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in northern Spain: mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations.

Lima J, Feijão T, Ferreira da Silva A, Pereira-Castro I, Fernandez-Ballester G, Máximo V, Herrero A, Serrano L, Sobrinho-Simões M, Garcia-Rostan G.

J Clin Endocrinol Metab. 2007 Dec;92(12):4853-64. Epub 2007 Sep 11.

PubMed [citation]
PMID:
17848412
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000581212.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

The c.717dupT pathogenic mutation, located in coding exon 7 of the SDHB gene, results from a duplication of T at nucleotide position 717, causing a translational frameshift with a predicted alternate stop codon. Similar alterations have been reported in this region in individuals with PCCs and PGLs (AmarL, J et al.Clin.Oncol. 2005 Dec; 23(34):8812-8;Neumann HP et al.Cancer Res. 2009 Apr; 69(8):3650-6;Lima J et al.J.Clin.Endocrinol.Metab. 2007 Dec; 92(12):4853-64). In addition to the evidence presented in the literature, since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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

Last Updated: Oct 8, 2021

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