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NM_003000.3(SDHB):c.688dup (p.Arg230fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 20, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001025764.2

Allele description [Variation Report for NM_003000.3(SDHB):c.688dup (p.Arg230fs)]

NM_003000.3(SDHB):c.688dup (p.Arg230fs)

Gene:
SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_003000.3(SDHB):c.688dup (p.Arg230fs)
HGVS:
  • NC_000001.11:g.17022685dup
  • NG_012340.1:g.36486dup
  • NM_003000.3:c.688dupMANE SELECT
  • NP_002991.2:p.Arg230fs
  • LRG_316t1:c.688dup
  • LRG_316:g.36486dup
  • NC_000001.10:g.17349180dup
  • NM_003000.2:c.688dupC
Protein change:
R230fs
Links:
dbSNP: rs1570944890
NCBI 1000 Genomes Browser:
rs1570944890
Molecular consequence:
  • NM_003000.3:c.688dup - 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; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001188016Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Dec 20, 2018) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Bayesian approach to determining penetrance of pathogenic SDH variants.

Benn DE, Zhu Y, Andrews KA, Wilding M, Duncan EL, Dwight T, Tothill RW, Burgess J, Crook A, Gill AJ, Hicks RJ, Kim E, Luxford C, Marfan H, Richardson AL, Robinson B, Schlosberg A, Susman R, Tacon L, Trainer A, Tucker K, Maher ER, et al.

J Med Genet. 2018 Nov;55(11):729-734. doi: 10.1136/jmedgenet-2018-105427. Epub 2018 Sep 10.

PubMed [citation]
PMID:
30201732
PMCID:
PMC6252366

Details of each submission

From Ambry Genetics, SCV001188016.3

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

Description

The c.688dupC pathogenic mutation, located in coding exon 7 of the SDHB gene, results from a duplication of C at nucleotide position 688, causing a translational frameshift with a predicted alternate stop codon (p.R230Pfs*26). This alteration, designated c.688-689insC, has been previously identified in 1 of 575 Australian individuals with a personal history of pheochromocytoma and/or paraganglioma (Benn DE et al. J. Med. Genet., 2018 Nov;55:729-734). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Dec 24, 2023