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NM_003000.3(SDHB):c.717dup (p.Leu240fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 30, 2020)
Last evaluated:
Jul 6, 2018
Accession:
VCV000412481.4
Variation ID:
412481
Description:
1bp duplication
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NM_003000.3(SDHB):c.717dup (p.Leu240fs)

Allele ID
390877
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17022655-17022656 (GRCh38) GRCh38 UCSC
1: 17349150-17349151 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_316:g.36515dup
NM_003000.2:c.717dupT frameshift
NC_000001.10:g.17349151dup
... more HGVS
Protein change
L240fs
Other names
-
Canonical SPDI
NC_000001.11:17022655:A:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16609911
dbSNP: rs1060503764
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jul 6, 2018 RCV000475105.3
Pathogenic 1 criteria provided, single submitter Nov 10, 2015 RCV000492377.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDHB Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
789 819

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 06, 2018)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stroma tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000554018.3
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change results in a premature translational stop signal in the SDHB gene (p.Leu240Serfs*16). While this is not anticipated to result in nonsense mediated … (more)
Pathogenic
(Nov 10, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000581212.4
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (3)
Comment:
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 … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. Neumann HP Cancer research 2009 PMID: 19351833
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 The Journal of clinical endocrinology and metabolism 2007 PMID: 17848412
Genetic testing in pheochromocytoma or functional paraganglioma. Amar L Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2005 PMID: 16314641

Text-mined citations for rs1060503764...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021