NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter) AND Cardiomyopathy

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);Uncertain significance(1) (Last evaluated: Aug 21, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000201506.2

Allele description [Variation Report for NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter)]

NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter)

Gene:
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.1021C>T (p.Arg341Ter)
HGVS:
  • NC_000003.12:g.14141613C>T
  • NG_008975.1:g.21674C>T
  • NM_024334.2:c.1021C>T
  • NM_024334.3:c.1021C>TMANE SELECT
  • NP_077310.1:p.Arg341Ter
  • NP_077310.1:p.Arg341Ter
  • LRG_435t1:c.1021C>T
  • LRG_435:g.21674C>T
  • LRG_435p1:p.Arg341Ter
  • NC_000003.11:g.14183113C>T
Protein change:
R341*
Links:
dbSNP: rs778127887
NCBI 1000 Genomes Browser:
rs778127887
Molecular consequence:
  • NM_024334.2:c.1021C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_024334.3:c.1021C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Cardiomyopathy (CMYO)
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000256202Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe)criteria provided, single submitter
Likely pathogenicgermlineclinical testing

LGCM_Criteria_August_2015,

Citation Link,

SCV001350782Color Health, Inccriteria provided, single submitter
Uncertain significance
(Aug 21, 2019)
germlineclinical testing

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

Description

This variant changes 1 nucleotide in the last coding exon of the TMEM43 gene, creating a premature translation stop signal. This variant is expected to escape nonsense-mediated decay and be expressed as a truncation protein. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 5/281958 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

SCV001350782

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe), SCV000256202.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Color Health, Inc, SCV001350782.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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