NM_006440.5(TXNRD2):c.1321C>T (p.Arg441Ter) AND Primary dilated cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Jan 9, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000232891.1

Allele description [Variation Report for NM_006440.5(TXNRD2):c.1321C>T (p.Arg441Ter)]

NM_006440.5(TXNRD2):c.1321C>T (p.Arg441Ter)

Gene:
TXNRD2:thioredoxin reductase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_006440.5(TXNRD2):c.1321C>T (p.Arg441Ter)
HGVS:
  • NC_000022.11:g.19878392G>A
  • NG_011835.1:g.68445C>T
  • NM_001352300.2:c.1318C>T
  • NM_001352301.1:c.1231C>T
  • NM_001352302.1:c.1033C>T
  • NM_006440.5:c.1321C>TMANE SELECT
  • NP_001339229.1:p.Arg440Ter
  • NP_001339230.1:p.Arg411Ter
  • NP_001339231.1:p.Arg345Ter
  • NP_006431.2:p.Arg441Ter
  • LRG_417t1:c.1321C>T
  • LRG_417:g.68445C>T
  • NC_000022.10:g.19865915G>A
  • NM_006440.3:c.1321C>T
  • NM_006440.4:c.1321C>T
  • NR_147957.2:n.1279C>T
Protein change:
R345*
Links:
dbSNP: rs200162480
NCBI 1000 Genomes Browser:
rs200162480
Molecular consequence:
  • NR_147957.2:n.1279C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001352300.2:c.1318C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352301.1:c.1231C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352302.1:c.1033C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006440.5:c.1321C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Congestive cardiomyopathy; Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000289537Invitaecriteria provided, single submitter
Uncertain significance
(Jan 9, 2016)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000289537.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change creates a premature translational stop signal at codon 441 (p.Arg441*). It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs200162480, ExAC <0.01%) but has not been reported in the literature in individuals with a TXNRD2-related disease. ClinVar contains an entry for this variant (Variation ID: 155853). While this particular variant has not been reported in the literature, truncating variants in TXNRD2 are not necessarily pathogenic (PMID: 21247928), and the clinical significance of this variant is uncertain at this time. For these reasons, this has been classified as a Variant of Uncertain Significance.

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

Last Updated: Jul 29, 2021

Support Center