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NM_003000.2(SDHB):c.299C>G (p.Ser100Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 16, 2020
Accession:
VCV000486417.8
Variation ID:
486417
Description:
single nucleotide variant
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NM_003000.2(SDHB):c.299C>G (p.Ser100Cys)

Allele ID
472339
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17028724 (GRCh38) GRCh38 UCSC
1: 17355219 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_316:g.30447C>G
LRG_316t1:c.299C>G LRG_316p1:p.Ser100Cys
NC_000001.10:g.17355219G>C
... more HGVS
Protein change
S100C
Other names
-
Canonical SPDI
NC_000001.11:17028723:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA338275124
dbSNP: rs121917755
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Aug 1, 2017 RCV000590918.3
Uncertain significance 1 criteria provided, single submitter Dec 29, 2018 RCV000566270.1
Uncertain significance 1 criteria provided, single submitter Aug 16, 2020 RCV000687053.4
Uncertain significance 1 criteria provided, single submitter Aug 1, 2017 RCV001095843.1
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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
Uncertain significance
(Oct 01, 2016)
criteria provided, single submitter
Method: research
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Allele origin: germline
CSER _CC_NCGL, University of Washington
Study: CSER - NEXT Medicine variant annotation
Accession: SCV000700144.1
Submitted: (Oct 25, 2017)
Evidence details
Comment:
Found in patient having exome sequencing for an unrelated indication. No history of paraganglioma or pheochromocytoma. This interpretation considers GERP score and allele frequency data, … (more)
Uncertain significance
(Dec 29, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000675070.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.S100C variant (also known as c.299C>G), located in coding exon 4 of the SDHB gene, results from a C to G substitution at nucleotide … (more)
Uncertain significance
(Aug 01, 2017)
criteria provided, single submitter
Method: clinical testing
Carney-Stratakis syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001252019.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Aug 01, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001252020.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Aug 16, 2020)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000814604.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces serine with cysteine at codon 100 of the SDHB protein (p.Ser100Cys). The serine 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
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

Text-mined citations for rs121917755...

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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 08, 2021