NM_006440.5(TXNRD2):c.1322G>A (p.Arg441Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Dec 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000430100.1

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]

Condition(s)

Identifiers:
MedGen: CN517202

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
SCV000535173GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 20, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000535173.3

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

Description

The R441Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R441Q variant is observed in 1/17248 (0.006%) alleles from individuals of East Asian background and 6/246246 (0.002%) total alleles in large population cohorts (Lek et al., 2016). The R441Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret R441Q as a variant of uncertain significance.

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

Last Updated: Jul 29, 2021

Support Center