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NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
Oct 4, 2020
Accession:
VCV000186827.12
Variation ID:
186827
Description:
single nucleotide variant
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NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)

Allele ID
181605
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17022649 (GRCh38) GRCh38 UCSC
1: 17349144 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.17349144G>A
NC_000001.11:g.17022649G>A
NG_012340.1:g.36522C>T
... more HGVS
Protein change
R242C
Other names
-
Canonical SPDI
NC_000001.11:17022648:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA016155
dbSNP: rs786203251
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 Jan 2, 2019 RCV000166478.2
Pathogenic 1 criteria provided, single submitter Oct 4, 2020 RCV000461517.6
Pathogenic 1 criteria provided, single submitter Oct 1, 2016 RCV001092589.2
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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
(Jan 02, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000217276.6
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (9)
Comment:
The p.R242C pathogenic mutation (also known as c.724C>T), located in coding exon 7 of the SDHB gene, results from a C to T substitution at … (more)
Pathogenic
(Oct 04, 2020)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000554036.7
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (11)
Comment:
This sequence change replaces arginine with cysteine at codon 242 of the SDHB protein (p.Arg242Cys). The arginine residue is highly conserved and there is a … (more)
Pathogenic
(Oct 01, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001249150.6
Submitted: (Jul 04, 2021)
Evidence details

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
Secondary findings in 421 whole exome-sequenced Chinese children. Chen W Human genomics 2018 PMID: 30217213
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i>. Andrews KA Journal of medical genetics 2018 PMID: 29386252
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
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. Panizza E Human molecular genetics 2013 PMID: 23175444
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. Jafri M Clinical endocrinology 2013 PMID: 23072324
Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function. Yang C FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2012 PMID: 22835832
Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. Lefebvre S Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2012 PMID: 22517554
Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management. Hermsen MA Cellular oncology : the official journal of the International Society for Cellular Oncology 2010 PMID: 20208144
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Ricketts CJ Human mutation 2010 PMID: 19802898
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
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
Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA. Baysal BE BMC biology 2007 PMID: 17376234
Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas. Schiavi F Annals of the New York Academy of Sciences 2006 PMID: 17102086
The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features. Badenhop RF Journal of medical genetics 2004 PMID: 15235042
Germ-line mutations in nonsyndromic pheochromocytoma. Neumann HP The New England journal of medicine 2002 PMID: 12000816
Effects of compression on physiologic integrity of the spinal cord, on circulation, and clinical status in four different directions of compression: posterior, anterior, circumferential, and lateral. Ueta T Spine 1992 PMID: 1523504
- - - - PMID: 19341833

Text-mined citations for rs786203251...

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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