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NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 5, 2019)
Last evaluated:
Oct 29, 2018
Accession:
VCV000438437.3
Variation ID:
438437
Description:
single nucleotide variant
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NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter)

Allele ID
432050
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.1
Genomic location
11: 112094832 (GRCh38) GRCh38 UCSC
11: 111965556 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_9:g.12986T>A
LRG_9t1:c.342T>A LRG_9p1:p.Tyr114Ter
NC_000011.10:g.112094832T>A
... more HGVS
Protein change
M66K, Y114*, Y75*
Other names
-
Canonical SPDI
NC_000011.10:112094831:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA382618852
dbSNP: rs1050032491
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 Aug 7, 2017 RCV000546525.2
Pathogenic 1 criteria provided, single submitter Oct 29, 2018 RCV001000118.2
Pathogenic 1 no assertion criteria provided - RCV000505385.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SDHD Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
424 442

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 07, 2017)
criteria provided, single submitter
Method: clinical testing
Carney-Stratakis syndrome
Paragangliomas 1
Pheochromocytoma
Cowden syndrome 3
Allele origin: germline
Invitae
Accession: SCV000645370.2
Submitted: (Apr 02, 2018)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change results in a premature translational stop signal in the last exon of the SDHD mRNA at codon 114 (p.Tyr114*). While this is … (more)
Pathogenic
(Oct 29, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001156553.1
Submitted: (Aug 05, 2019)
Evidence details
Comment:
The SDHD c.342T>A; p.Tyr114Ter variant is reported in the literature in multiple individuals affected with paragangliomas (Andrews 2018, Timmers 2008). This variant is reported as … (more)
Pathogenic
(-)
no assertion criteria provided
Method: research
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Allele origin: germline
Section on Medical Neuroendocrinolgy,National Institutes of Health
Accession: SCV000599543.1
Submitted: (Jul 10, 2017)
Evidence details

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
Mutations associated with succinate dehydrogenase D-related malignant paragangliomas. Timmers HJ Clinical endocrinology 2008 PMID: 17973943
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 rs1050032491...

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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 27, 2021