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NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 9, 2020
Accession:
VCV000239470.3
Variation ID:
239470
Description:
single nucleotide variant
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NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)

Allele ID
241050
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.1
Genomic location
11: 112094851 (GRCh38) GRCh38 UCSC
11: 111965575 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.112094851C>T
NC_000011.9:g.111965575C>T
NG_012337.3:g.13005C>T
... more HGVS
Protein change
Q121*, Q82*
Other names
-
Canonical SPDI
NC_000011.10:112094850:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10582872
dbSNP: rs878854594
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 Sep 9, 2020 RCV000226232.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDHD Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
421 438

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 09, 2020)
criteria provided, single submitter
Method: clinical testing
Carney-Stratakis syndrome
Paragangliomas 1
Pheochromocytoma
Cowden syndrome 3
Allele origin: germline
Invitae
Accession: SCV000287826.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change results in a premature translational stop signal in the SDHD gene (p.Gln121*). While this is not anticipated to result in nonsense mediated … (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
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. Hensen EF Clinical genetics 2012 PMID: 21348866
Germ-line mutations in nonsyndromic pheochromocytoma. Neumann HP The New England journal of medicine 2002 PMID: 12000816
Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Taschner PE Genes, chromosomes & cancer 2001 PMID: 11391798

Text-mined citations for rs878854594...

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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