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NM_003000.2(SDHB):c.299C>T (p.Ser100Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 9, 2020)
Last evaluated:
Feb 7, 2018
Accession:
VCV000012788.2
Variation ID:
12788
Description:
single nucleotide variant
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NM_003000.2(SDHB):c.299C>T (p.Ser100Phe)

Allele ID
27827
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
NC_000001.10:g.17355219G>A
NC_000001.11:g.17028724G>A
LRG_316t1:c.299C>T LRG_316p1:p.Ser100Phe
... more HGVS
Protein change
S100F
Other names
-
Canonical SPDI
NC_000001.11:17028723:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA015720
UniProtKB: P21912#VAR_037620
OMIM: 185470.0011
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 1 criteria provided, single submitter Feb 7, 2018 RCV001266192.1
Pathogenic 1 no assertion criteria provided Jan 1, 2004 RCV000013629.26
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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
(Feb 07, 2018)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV001444364.1
Submitted: (Oct 09, 2020)
Evidence details
Publications
PubMed (2)
Pathogenic
(Jan 01, 2004)
no assertion criteria provided
Method: literature only
PHEOCHROMOCYTOMA, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000033876.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Somatic SDHB mutation in an extraadrenal pheochromocytoma. van Nederveen FH The New England journal of medicine 2007 PMID: 17634472
Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. Pollard PJ Human molecular genetics 2005 PMID: 15987702
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Vanharanta S American journal of human genetics 2004 PMID: 14685938

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 Nov 26, 2020