NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser) AND not provided

Clinical significance:Likely benign (Last evaluated: Dec 17, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV001528560.6

Allele description [Variation Report for NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser)]

NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser)

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.858G>C (p.Arg286Ser)
HGVS:
  • NC_000022.11:g.19895498C>G
  • NG_011835.1:g.51339G>C
  • NM_001282512.3:c.858G>C
  • NM_001352300.2:c.855G>C
  • NM_001352301.1:c.768G>C
  • NM_001352302.1:c.570G>C
  • NM_001352303.1:c.762G>C
  • NM_006440.5:c.858G>CMANE SELECT
  • NP_001269441.1:p.Arg286Ser
  • NP_001339229.1:p.Arg285Ser
  • NP_001339230.1:p.Arg256Ser
  • NP_001339231.1:p.Arg190Ser
  • NP_001339232.1:p.Arg254Ser
  • NP_006431.2:p.Arg286Ser
  • LRG_417t1:c.858G>C
  • LRG_417:g.51339G>C
  • NC_000022.10:g.19883021C>G
  • NM_006440.3:c.858G>C
  • NM_006440.4:c.858G>C
  • NR_147957.2:n.816G>C
Protein change:
R190S
Links:
dbSNP: rs201503021
NCBI 1000 Genomes Browser:
rs201503021
Molecular consequence:
  • NM_001282512.3:c.858G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352300.2:c.855G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352301.1:c.768G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352302.1:c.570G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352303.1:c.762G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006440.5:c.858G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147957.2:n.816G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001740470Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

SCV001804069GeneDxcriteria provided, single submitter
Likely benign
(Dec 17, 2020)
germlineclinical testing

Citation Link,

SCV001970772Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001740470.3

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

From GeneDx, SCV001804069.1

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

Description

This variant is associated with the following publications: (PMID: 21247928)

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001970772.1

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

Last Updated: Oct 6, 2021

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