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NM_024334.3(TMEM43):c.*719G>T AND Arrhythmogenic right ventricular cardiomyopathy

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000376019.5

Allele description [Variation Report for NM_024334.3(TMEM43):c.*719G>T]

NM_024334.3(TMEM43):c.*719G>T

Genes:
XPC:XPC complex subunit, DNA damage recognition and repair factor [Gene - OMIM - HGNC]
TMEM43:transmembrane protein 43 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_024334.3(TMEM43):c.*719G>T
HGVS:
  • NC_000003.12:g.14142514G>T
  • NG_008975.1:g.22575G>T
  • NM_024334.3:c.*719G>TMANE SELECT
  • LRG_435t1:c.*719G>T
  • LRG_435:g.22575G>T
  • NC_000003.11:g.14184014G>T
  • NM_024334.2:c.*719G>T
Links:
dbSNP: rs3796308
NCBI 1000 Genomes Browser:
rs3796308
Molecular consequence:
  • NM_024334.3:c.*719G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Arrhythmogenic right ventricular cardiomyopathy (ARVD)
Synonyms:
Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
Identifiers:
MONDO: MONDO:0016587; MeSH: D019571; MedGen: C0349788

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000441319Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000441319.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024