NM_003241.4(TGM4):c.806G>A (p.Trp269Ter) 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:: RCV001543420.1

Allele description [Variation Report for NM_003241.4(TGM4):c.806G>A (p.Trp269Ter)]

NM_003241.4(TGM4):c.806G>A (p.Trp269Ter)

Gene:

TGM4:transglutaminase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_003241.4(TGM4):c.806G>A (p.Trp269Ter)

HGVS:

NC_000003.12:g.44901672G>A
NM_003241.4:c.806G>AMANE SELECT
NP_003232.2:p.Trp269Ter
NC_000003.11:g.44943164G>A
NM_003241.3:c.806G>A

Protein change:

W269*

Links:

dbSNP: rs139860990

NCBI 1000 Genomes Browser:

rs139860990

Molecular consequence:

NM_003241.4:c.806G>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001761981	University of Washington Center for Mendelian Genomics, University of Washington	no assertion criteria provided	Likely pathogenic	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001761981

University of Washington Center for Mendelian Genomics, University of Washington

no assertion criteria provided

Likely pathogenic

inherited

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	research

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, SCV001761981.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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