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NM_032423.3(ZNF528):c.1282C>T (p.Arg428Ter) AND Essential tremor

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001543351.1

Allele description [Variation Report for NM_032423.3(ZNF528):c.1282C>T (p.Arg428Ter)]

NM_032423.3(ZNF528):c.1282C>T (p.Arg428Ter)

Gene:
ZNF528:zinc finger protein 528 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.41
Genomic location:
Preferred name:
NM_032423.3(ZNF528):c.1282C>T (p.Arg428Ter)
HGVS:
  • NC_000019.10:g.52416134C>T
  • NM_032423.3:c.1282C>TMANE SELECT
  • NP_115799.2:p.Arg428Ter
  • NC_000019.9:g.52919387C>T
  • NM_032423.2:c.1282C>T
Protein change:
R428*
Links:
dbSNP: rs150257846
NCBI 1000 Genomes Browser:
rs150257846
Molecular consequence:
  • NM_032423.3:c.1282C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Essential tremor
Synonyms:
Benign essential tremor syndrome; Presenile tremor syndrome
Identifiers:
MONDO: MONDO:0003233; MedGen: C0270736; OMIM: PS190300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001761906University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenicinheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Exome-wide rare variant analysis in familial essential tremor.

Diez-Fairen M, Houle G, Ortega-Cubero S, Bandres-Ciga S, Alvarez I, Carcel M, Ibañez L, Fernandez MV, Budde JP, Trotta JR, Tonda R, Chong JX, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics (UWCMG)., Aguilar M, Tartari JP, Gironell A, García-Martín E, Agundez JA, Alonso-Navarro H, Jimenez-Jimenez FJ, et al.

Parkinsonism Relat Disord. 2021 Jan;82:109-116. doi: 10.1016/j.parkreldis.2020.11.021. Epub 2020 Nov 24.

PubMed [citation]
PMID:
33279834
PMCID:
PMC7856267

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001761906.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024