Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_003002.4(SDHD):c.170-1G>T

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Aug 29, 2018)
Last evaluated:
Jun 12, 2018
Accession:
VCV000438434.1
Variation ID:
438434
Description:
single nucleotide variant
Help

NM_003002.4(SDHD):c.170-1G>T

Allele ID
432045
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q23.1
Genomic location
11: 112088866 (GRCh38) GRCh38 UCSC
11: 111959590 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_9:g.7020G>T
LRG_9t1:c.170-1G>T
NC_000011.10:g.112088866G>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:112088865:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA382617149
dbSNP: rs1306475361
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jun 12, 2018 RCV000641037.2
Pathogenic 1 no assertion criteria provided - RCV000505295.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 12, 2018)
criteria provided, single submitter
Method: clinical testing
Paraganglioma and gastric stromal sarcoma
Paragangliomas 1
Pheochromocytoma
Cowden syndrome 3
Allele origin: germline
Invitae
Accession: SCV000762655.2
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (7)
Comment:
This sequence change affects an acceptor splice site in intron 2 of the SDHD gene. It is expected to disrupt RNA splicing and likely results … (more)
Pathogenic
(-)
no assertion criteria provided
Method: research
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Allele origin: germline
Section on Medical Neuroendocrinolgy,National Institutes of Health
Accession: SCV000599538.1
Submitted: (Jul 10, 2017)
Evidence details

Functional evidence

Help
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

Help
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
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Ricketts CJ Human mutation 2010 PMID: 19802898
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. Burnichon N The Journal of clinical endocrinology and metabolism 2009 PMID: 19454582
Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior. Ghayee HK Endocrine-related cancer 2009 PMID: 19075037
High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. Persu A Journal of hypertension 2008 PMID: 18551016
A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment. Renard L Head & neck 2003 PMID: 12509798
Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma. Dannenberg H Clinical cancer research : an official journal of the American Association for Cancer Research 2002 PMID: 12114404

Text-mined citations for rs1306475361...

Help
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 20, 2021