NM_006440.5(TXNRD2):c.403del (p.His135fs) AND Primary dilated cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Apr 19, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001215214.1

Allele description [Variation Report for NM_006440.5(TXNRD2):c.403del (p.His135fs)]

NM_006440.5(TXNRD2):c.403del (p.His135fs)

Gene:
TXNRD2:thioredoxin reductase 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
NM_006440.5(TXNRD2):c.403del (p.His135fs)
HGVS:
  • NC_000022.11:g.19918189del
  • NG_011835.1:g.28648del
  • NM_001282512.3:c.403del
  • NM_001352300.2:c.400del
  • NM_001352301.2:c.313del
  • NM_001352302.2:c.115del
  • NM_001352303.2:c.307del
  • NM_006440.5:c.403delMANE SELECT
  • NP_001269441.1:p.His135fs
  • NP_001339229.1:p.His134fs
  • NP_001339230.1:p.His105fs
  • NP_001339231.1:p.His39fs
  • NP_001339232.1:p.His103fs
  • NP_006431.2:p.His135fs
  • LRG_417:g.28648del
  • NC_000022.10:g.19905712del
  • NC_000022.10:g.19905712del
  • NM_006440.4:c.403del
  • NR_147957.2:n.361del
Protein change:
H103fs
Molecular consequence:
  • NM_001282512.3:c.403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352300.2:c.400del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352301.2:c.313del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352302.2:c.115del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001352303.2:c.307del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006440.5:c.403del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_147957.2:n.361del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001386944Invitaecriteria provided, single submitter
Uncertain significance
(Apr 19, 2019)
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, SCV001386944.2

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

Description

This sequence change creates a premature translational stop signal (p.His135Thrfs*2) in the TXNRD2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TXNRD2-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TXNRD2 cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 24, 2021

Support Center