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NM_006440.5(TXNRD2):c.847C>T (p.Arg283Trp) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 22, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002445260.3

Allele description [Variation Report for NM_006440.5(TXNRD2):c.847C>T (p.Arg283Trp)]

NM_006440.5(TXNRD2):c.847C>T (p.Arg283Trp)

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.847C>T (p.Arg283Trp)
HGVS:
  • NC_000022.11:g.19895509G>A
  • NG_011835.1:g.51328C>T
  • NM_001282512.3:c.847C>T
  • NM_001352300.2:c.844C>T
  • NM_001352301.2:c.757C>T
  • NM_001352302.2:c.559C>T
  • NM_001352303.2:c.751C>T
  • NM_006440.5:c.847C>TMANE SELECT
  • NP_001269441.1:p.Arg283Trp
  • NP_001339229.1:p.Arg282Trp
  • NP_001339230.1:p.Arg253Trp
  • NP_001339231.1:p.Arg187Trp
  • NP_001339232.1:p.Arg251Trp
  • NP_006431.2:p.Arg283Trp
  • LRG_417t1:c.847C>T
  • LRG_417:g.51328C>T
  • NC_000022.10:g.19883032G>A
  • NM_006440.3:c.847C>T
  • NM_006440.4:c.847C>T
  • NR_147957.2:n.805C>T
Protein change:
R187W
Links:
dbSNP: rs200981451
NCBI 1000 Genomes Browser:
rs200981451
Molecular consequence:
  • NM_001282512.3:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352300.2:c.844C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352301.2:c.757C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352302.2:c.559C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352303.2:c.751C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006440.5:c.847C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147957.2:n.805C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002681588Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 22, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002681588.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.R283W variant (also known as c.847C>T), located in coding exon 11 of the TXNRD2 gene, results from a C to T substitution at nucleotide position 847. The arginine at codon 283 is replaced by tryptophan, 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024