NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Apr 25, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000618377.1

Allele description [Variation Report for NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val)]

NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val)

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.869G>T (p.Gly290Val)
HGVS:
  • NC_000022.11:g.19895487C>A
  • NG_011835.1:g.51350G>T
  • NM_001282512.3:c.869G>T
  • NM_001352300.2:c.866G>T
  • NM_001352301.1:c.779G>T
  • NM_001352302.1:c.581G>T
  • NM_001352303.1:c.773G>T
  • NM_006440.5:c.869G>TMANE SELECT
  • NP_001269441.1:p.Gly290Val
  • NP_001339229.1:p.Gly289Val
  • NP_001339230.1:p.Gly260Val
  • NP_001339231.1:p.Gly194Val
  • NP_001339232.1:p.Gly258Val
  • NP_006431.2:p.Gly290Val
  • LRG_417t1:c.869G>T
  • LRG_417:g.51350G>T
  • NC_000022.10:g.19883010C>A
  • NM_006440.3:c.869G>T
  • NM_006440.4:c.869G>T
  • NR_147957.2:n.827G>T
Protein change:
G194V
Links:
dbSNP: rs543290126
NCBI 1000 Genomes Browser:
rs543290126
Molecular consequence:
  • NM_001282512.3:c.869G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352300.2:c.866G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352301.1:c.779G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352302.1:c.581G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352303.1:c.773G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006440.5:c.869G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147957.2:n.827G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000736236Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Apr 25, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000736236.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.G290V variant (also known as c.869G>T), located in coding exon 11 of the TXNRD2 gene, results from a G to T substitution at nucleotide position 869. The glycine at codon 290 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jul 29, 2021

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