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NM_003000.2(SDHB):c.112del (p.Arg38fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Nov 17, 2017
Accession:
VCV000528741.1
Variation ID:
528741
Description:
1bp deletion
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NM_003000.2(SDHB):c.112del (p.Arg38fs)

Allele ID
515373
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1p36.13
Genomic location
1: 17044849 (GRCh38) GRCh38 UCSC
1: 17371344 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_003000.2:c.112delC frameshift
LRG_316t1:c.112del LRG_316p1:p.Arg38fs
NC_000001.10:g.17371347del
... more HGVS
Protein change
R38fs
Other names
-
Canonical SPDI
NC_000001.11:17044848:GGGG:GGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658795409
dbSNP: rs398123690
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 17, 2017 RCV000633966.1
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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
Pathogenic
(Nov 17, 2017)
criteria provided, single submitter
Method: clinical testing
Gastrointestinal stromal tumor
Paragangliomas 4
Pheochromocytoma
Allele origin: germline
Invitae
Accession: SCV000755239.1
Submitted: (Apr 02, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Arg38Valfs*39) in the SDHB gene. It is expected to result in an absent or disrupted protein … (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
Genetics of Apparently Sporadic Pheochromocytoma and Paraganglioma in a Chinese Population. Lee CH Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2015 PMID: 26267327

Text-mined citations for rs398123690...

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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