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NM_018105.3(THAP1):c.388_389del (p.Val131fs) AND Torsion dystonia 6

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2009
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000001716.4

Allele description [Variation Report for NM_018105.3(THAP1):c.388_389del (p.Val131fs)]

NM_018105.3(THAP1):c.388_389del (p.Val131fs)

Gene:
THAP1:THAP domain containing 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
8p11.21
Genomic location:
Preferred name:
NM_018105.3(THAP1):c.388_389del (p.Val131fs)
HGVS:
  • NC_000008.11:g.42838215GA[2]
  • NG_011837.1:g.10112TC[2]
  • NM_018105.3:c.388_389delMANE SELECT
  • NM_199003.2:c.*26TC[2]
  • NP_060575.1:p.Val131fs
  • NC_000008.10:g.42693358GA[2]
  • NM_018105.2:c.388_389delTC
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
V131fs
Links:
OMIM: 609520.0005; dbSNP: rs1586456350
NCBI 1000 Genomes Browser:
rs1586456350
Molecular consequence:
  • NM_199003.2:c.*26TC[2] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_018105.3:c.388_389del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Torsion dystonia 6 (DYT6)
Synonyms:
Torsion dystonia adult onset mixed type; DYT-THAP1
Identifiers:
MONDO: MONDO:0011264; MedGen: C1414216; Orphanet: 98806; OMIM: 602629

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021872OMIM
no assertion criteria provided
Pathogenic
(May 1, 2009) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.

Djarmati A, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Raković A, Schmidt A, Jabusch HC, Wilcox R, Kostić VS, Siebner H, Altenmüller E, Münchau A, Ozelius LJ, Klein C.

Lancet Neurol. 2009 May;8(5):447-52. doi: 10.1016/S1474-4422(09)70083-3. Epub 2009 Apr 1.

PubMed [citation]
PMID:
19345148

Details of each submission

From OMIM, SCV000021872.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 35-year-old German man with DYT6 (602629), Djarmati et al. (2009) identified a heterozygous 2-bp deletion (388delTC) in exon 3 of the THAP1 gene, resulting in a frameshift, premature termination, and elimination of the nuclear localization signal. He developed dysphonia at age 9 years, followed by writer's dystonia, further bulbar involvement and jaw-opening dystonia, and generalization affecting the limbs, neck, and trunk. The mutation was not found in 280 unrelated German controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022