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NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 16, 2020
Accession:
VCV000976001.2
Variation ID:
976001
Description:
single nucleotide variant
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NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr)

Allele ID
964135
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17024043 (GRCh38) GRCh38 UCSC
1: 17350538 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.17350538C>T
NC_000001.11:g.17024043C>T
NG_012340.1:g.35128G>A
... more HGVS
Protein change
C191Y
Other names
-
Canonical SPDI
NC_000001.11:17024042:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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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 Feb 19, 2020 RCV001253160.1
Pathogenic 1 criteria provided, single submitter Oct 16, 2020 RCV001387122.1
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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
Likely pathogenic
(Feb 19, 2020)
criteria provided, single submitter
Method: clinical testing
Renal neoplasm
Allele origin: germline
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001428735.1
Submitted: (Apr 20, 2020)
Evidence details
Pathogenic
(Oct 16, 2020)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV001587662.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces cysteine with tyrosine at codon 191 of the SDHB protein (p.Cys191Tyr). The cysteine residue is highly conserved and there is 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
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. Richter S Genetics in medicine : official journal of the American College of Medical Genetics 2019 PMID: 30050099
SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T). Papathomas TG Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2015 PMID: 25720320
Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. Piccini V Endocrine-related cancer 2012 PMID: 22241717
Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor. Goffrini P Human molecular genetics 2009 PMID: 19261679

Record last updated Oct 08, 2021