VCV000016765.1 - ClinVar

DRD5, (CT/GT/GA)n

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(1)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

risk factor

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

DRD5, (CT/GT/GA)n

Variation ID: 16765 Accession: VCV000016765.1

Type and length

Microsatellite, 143 bp

Location

Cytogenetic: 4p16.1 4: 9763657-9763799 (GRCh38) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	May 21, 2018	May 21, 2018	May 18, 2018

HGVS

Nucleotide	Protein	Molecular consequence
NC_000004.12:g.9763657_9763799[134_156]

Protein change

Other names

DRD5, (CT/GT/GA)n

Canonical SPDI

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

OMIM: 126453.0001 VarSome

Comment on variant

The primers reported by Sherrington et al., 1993 (PubMed 8288248) detect the region between NC_000004.12:g.9763657_9763799 and detect the pure (CA)n repeat (rs1553860005) as well as mixed repeats including rs143464052 (CT)n and more.

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
DRD5		No evidence available	No evidence available	GRCh38 GRCh37	2	138

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Blepharospasm	risk factor (1)	no assertion criteria provided	May 18, 2018	RCV000018251.28

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
risk factor (May 18, 2018)	no assertion criteria provided Method: literature only	BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO Affected status: not provided Allele origin: germline	OMIM Accession: SCV000038530.2 First in ClinVar: Apr 04, 2013 Last updated: May 21, 2018	Publications: PubMed (2) PubMed: 8288248‚ 12700316 Comment on evidence: Sherrington et al. (1993) identified a polymorphic microsatellite, which they named DRD5 (CT/GT/GA)n, and determined that there are 12 alleles of differing sizes. Brancati et … (more) Sherrington et al. (1993) identified a polymorphic microsatellite, which they named DRD5 (CT/GT/GA)n, and determined that there are 12 alleles of differing sizes. Brancati et al. (2003) noted that this polymorphic microsatellite is located 5-prime to and outside of the coding region of the DRD5 gene. This suggests that it may not have a functional role, but rather may be in linkage disquilibrium with a functional variant that could explain its association with certain disorders. (less)

Germline Functional Evidence

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 germline classification of this variant

Title	Author	Journal	Year	Link
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia.	Brancati F	Journal of neurology, neurosurgery, and psychiatry	2003	PMID: 12700316
Cloning of the human dopamine D5 receptor gene and identification of a highly polymorphic microsatellite for the DRD5 locus that shows tight linkage to the chromosome 4p reference marker RAF1P1.	Sherrington R	Genomics	1993	PMID: 8288248

Text-mined citations for this variant ...

Record last updated Jan 26, 2024

ClinVar Genomic variation as it relates to human health

DRD5, (CT/GT/GA)n

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...