Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_003000.2(SDHB):c.716C>G (p.Ser239Cys)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 26, 2020
Accession:
VCV000161385.7
Variation ID:
161385
Description:
single nucleotide variant
Help

NM_003000.2(SDHB):c.716C>G (p.Ser239Cys)

Allele ID
171052
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17022657 (GRCh38) GRCh38 UCSC
1: 17349152 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.17349152G>C
NC_000001.11:g.17022657G>C
NG_012340.1:g.36514C>G
... more HGVS
Protein change
S239C
Other names
-
Canonical SPDI
NC_000001.11:17022656:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA016128
dbSNP: rs201098090
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 26, 2020 RCV000795778.3
Uncertain significance 1 criteria provided, single submitter Oct 7, 2019 RCV001026110.1
Uncertain significance 1 no assertion criteria provided Jun 1, 2014 RCV000148869.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 07, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001188429.2
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The p.S239C variant (also known as c.716C>G), located in coding exon 7 of the SDHB gene, results from a C to G substitution at nucleotide … (more)
Uncertain significance
(Jul 26, 2020)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000935252.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces serine with cysteine at codon 239 of the SDHB protein (p.Ser239Cys). The serine residue is highly conserved and there is a … (more)
Uncertain significance
(Jun 01, 2014)
no assertion criteria provided
Method: research
Phaeochromocytoma
(Autosomal dominant inheritance)
Allele origin: germline
CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190613.1
Submitted: (Aug 28, 2014)
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico. Dutil J Scientific reports 2019 PMID: 31780696
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Amendola LM Genome research 2015 PMID: 25637381
Prevalence of germline mutations in patients with pheochromocytoma or abdominal paraganglioma and sporadic presentation: a population-based study in Western Sweden. Muth A World journal of surgery 2012 PMID: 22270996

Text-mined citations for rs201098090...

Help
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 08, 2021