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NM_003239.5(TGFB3):c.*495C>T AND Arrhythmogenic right ventricular dysplasia 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2005
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:
RCV000013293.32

Allele description [Variation Report for NM_003239.5(TGFB3):c.*495C>T]

NM_003239.5(TGFB3):c.*495C>T

Gene:
TGFB3:transforming growth factor beta 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_003239.5(TGFB3):c.*495C>T
HGVS:
  • NC_000014.9:g.75958692G>A
  • NG_011715.1:g.28058C>T
  • NM_001329939.2:c.*495C>T
  • NM_003239.4:c.*495C>T
  • NM_003239.5:c.*495C>TMANE SELECT
  • LRG_399:g.28058C>T
  • NC_000014.8:g.76425035G>A
Links:
OMIM: 190230.0002; dbSNP: rs387906514
NCBI 1000 Genomes Browser:
rs387906514
Molecular consequence:
  • NM_001329939.2:c.*495C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_003239.5:c.*495C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Arrhythmogenic right ventricular dysplasia 1
Synonyms:
Arrhythmogenic right ventricular dysplasia, familial 1
Identifiers:
MONDO: MONDO:0007152; MedGen: C1862511; Orphanet: 3403; OMIM: 107970

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033540OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 2005) 		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

Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1.

Beffagna G, Occhi G, Nava A, Vitiello L, Ditadi A, Basso C, Bauce B, Carraro G, Thiene G, Towbin JA, Danieli GA, Rampazzo A.

Cardiovasc Res. 2005 Feb 1;65(2):366-73.

PubMed [citation]
PMID:
15639475

Details of each submission

From OMIM, SCV000033540.3

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

Description

In a young man with arrhythmogenic right ventricular dysplasia-1 (ARVD1; 107970), Beffagna et al. (2005) identified a C-to-T transition at cDNA position 1723 in the 3-prime UTR of the TGFB3 gene (c.1723C-T, NM_003239). In transfection studies, the mutant construct showed significantly higher luciferase reporter activity (about 2.5-fold, p less than 0.01) compared to wildtype constructs. The patient had a brother who died suddenly at the age of 16 and was found to have ARVD at autopsy.

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

Last Updated: Nov 3, 2024