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NM_003002.4(SDHD):c.*5T>C AND Hereditary pheochromocytoma-paraganglioma

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 5, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004000902.2

Allele description [Variation Report for NM_003002.4(SDHD):c.*5T>C]

NM_003002.4(SDHD):c.*5T>C

Gene:
SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.1
Genomic location:
Preferred name:
NM_003002.4(SDHD):c.*5T>C
HGVS:
  • NC_000011.10:g.112094975T>C
  • NG_012337.3:g.13129T>C
  • NM_001276503.2:c.*82T>C
  • NM_001276504.2:c.*5T>C
  • NM_001276506.2:c.*183T>C
  • NM_003002.4:c.*5T>CMANE SELECT
  • LRG_9t1:c.*5T>C
  • LRG_9:g.13129T>C
  • NC_000011.9:g.111965699T>C
  • NM_003002.2:c.*5T>C
  • NM_003002.3:c.*5T>C
  • NR_077060.2:n.574T>C
Links:
dbSNP: rs201987672
NCBI 1000 Genomes Browser:
rs201987672
Molecular consequence:
  • NM_001276503.2:c.*82T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276504.2:c.*5T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276506.2:c.*183T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_003002.4:c.*5T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NR_077060.2:n.574T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
50

Condition(s)

Name:
Hereditary pheochromocytoma-paraganglioma
Synonyms:
Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas
Identifiers:
MONDO: MONDO:0017366; MedGen: C1708353

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004822642All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely Benign
(Feb 5, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown50not providednot provided108544not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From All of Us Research Program, National Institutes of Health, SCV004822642.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided50not providednot providedclinical testing PubMed (1)

Description

This variant is located in the 3' untranslated region of the SDHD gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with SDHD-related disorders in the literature. This variant has been identified in 38/279114 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided50not providednot providednot provided

Last Updated: Sep 29, 2024