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NM_003000.2(SDHB):c.23C>T (p.Ser8Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 20, 2020
Accession:
VCV000567400.6
Variation ID:
567400
Description:
single nucleotide variant
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NM_003000.2(SDHB):c.23C>T (p.Ser8Phe)

Allele ID
557056
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17380492 (GRCh37) GRCh37 UCSC
1: 17053997 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_316:g.5174C>T
LRG_316t1:c.23C>T LRG_316p1:p.Ser8Phe
NC_000001.10:g.17380492G>A
... more HGVS
Protein change
S8F
Other names
-
Canonical SPDI
NC_000001.11:17053996:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs199848267
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 Apr 20, 2020 RCV000687472.4
Uncertain significance 1 criteria provided, single submitter Aug 20, 2020 RCV001015412.2
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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
Uncertain significance
(Aug 20, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001176240.2
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.S8F variant (also known as c.23C>T), located in coding exon 1 of the SDHB gene, results from a C to T substitution at nucleotide … (more)
Uncertain significance
(Apr 20, 2020)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000815037.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces serine with phenylalanine at codon 8 of the SDHB protein (p.Ser8Phe). The serine residue is moderately 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
Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients. Castellano M Annals of the New York Academy of Sciences 2006 PMID: 17102082

Text-mined citations for rs199848267...

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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