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NM_003000.2(SDHB):c.260T>C (p.Leu87Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Aug 29, 2018)
Last evaluated:
Apr 19, 2018
Accession:
VCV000178686.1
Variation ID:
178686
Description:
single nucleotide variant
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NM_003000.2(SDHB):c.260T>C (p.Leu87Ser)

Allele ID
172493
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17033086 (GRCh38) GRCh38 UCSC
1: 17359581 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_316:g.26085T>C
NC_000001.11:g.17033086A>G
NC_000001.10:g.17359581A>G
... more HGVS
Protein change
L87S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: P21912#VAR_018517
dbSNP: rs727504457
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 2, 2014 RCV000155443.1
Uncertain significance 1 criteria provided, single submitter Apr 19, 2018 RCV000697957.1
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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
418 443

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 02, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary Paraganglioma-Pheochromocytoma Syndromes
(Autosomal dominant inheritance)
Allele origin: germline
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
Accession: SCV000205134.4
Submitted: (Feb 23, 2018)
Evidence details
Publications
PubMed (6)
Comment:
The Leu87Ser variant in SDHB has been reported in at least 6 individuals with paraganglioma/pheochromocytoma, one of which progressed into malignant disease (Burnichon 2009, Buffet ... (more)
Uncertain significance
(Apr 19, 2018)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stroma tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000826592.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces leucine with serine at codon 87 of the SDHB protein (p.Leu87Ser). The leucine residue is highly conserved and there is a ... (more)

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma. Buffet A Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2012 PMID: 22517557
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. Burnichon N The Journal of clinical endocrinology and metabolism 2009 PMID: 19454582
Genetic testing for pheochromocytoma-associated syndromes. Pawlu C Annales d'endocrinologie 2005 PMID: 15988378
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. Neumann HP JAMA 2004 PMID: 15328326
Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes. Bauters C Journal of medical genetics 2003 PMID: 12807974
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Astuti D American journal of human genetics 2001 PMID: 11404820

Record last updated Mar 29, 2019