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NM_003000.3(SDHB):c.713T>C (p.Phe238Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 21, 2020
Accession:
VCV000486420.5
Variation ID:
486420
Description:
single nucleotide variant
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NM_003000.3(SDHB):c.713T>C (p.Phe238Ser)

Allele ID
472273
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17022660 (GRCh38) GRCh38 UCSC
1: 17349155 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.17349155A>G
NM_003000.2:c.713T>C NP_002991.2:p.Phe238Ser missense
NC_000001.10:g.17349155A>G
... more HGVS
Protein change
F238S
Other names
-
Canonical SPDI
NC_000001.11:17022659:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA338270254
dbSNP: rs1553177279
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 8, 2017 RCV000569670.1
Uncertain significance 1 criteria provided, single submitter Oct 21, 2020 RCV001207029.2
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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
(Feb 08, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000675082.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.F238S variant (also known as c.713T>C), located in coding exon 7 of the SDHB gene, results from a T to C substitution at nucleotide … (more)
Uncertain significance
(Oct 21, 2020)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV001378366.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces phenylalanine with serine at codon 238 of the SDHB protein (p.Phe238Ser). The phenylalanine 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
Genetic testing in pheochromocytoma or functional paraganglioma. Amar L Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2005 PMID: 16314641

Text-mined citations for rs1553177279...

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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