NM_006440.5(TXNRD2):c.1322G>A (p.Arg441Gln) AND Primary dilated cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: May 5, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000208108.1

Allele description [Variation Report for NM_006440.5(TXNRD2):c.1322G>A (p.Arg441Gln)]

NM_006440.5(TXNRD2):c.1322G>A (p.Arg441Gln)

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.1322G>A (p.Arg441Gln)
HGVS:
  • NC_000022.11:g.19878391C>T
  • NG_011835.1:g.68446G>A
  • NM_001352300.2:c.1319G>A
  • NM_001352301.1:c.1232G>A
  • NM_001352302.1:c.1034G>A
  • NM_006440.5:c.1322G>AMANE SELECT
  • NP_001339229.1:p.Arg440Gln
  • NP_001339230.1:p.Arg411Gln
  • NP_001339231.1:p.Arg345Gln
  • NP_006431.2:p.Arg441Gln
  • LRG_417t1:c.1322G>A
  • LRG_417:g.68446G>A
  • NC_000022.10:g.19865914C>T
  • NM_006440.3:c.1322G>A
  • NR_147957.2:n.1280G>A
Protein change:
R345Q
Links:
dbSNP: rs759374389
NCBI 1000 Genomes Browser:
rs759374389
Molecular consequence:
  • NM_001352300.2:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352301.1:c.1232G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352302.1:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006440.5:c.1322G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147957.2:n.1280G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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
SCV000264312Blueprint Geneticscriteria provided, single submitter
Uncertain significance
(May 5, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000264312.2

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

Last Updated: Jul 29, 2021

Support Center