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

Clinical significance:Likely benign (Last evaluated: Dec 8, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000618863.2

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]
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
SCV000736491Ambry Geneticscriteria provided, single submitter
Likely benign
(Dec 8, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy.

Sibbing D, Pfeufer A, Perisic T, Mannes AM, Fritz-Wolf K, Unwin S, Sinner MF, Gieger C, Gloeckner CJ, Wichmann HE, Kremmer E, Schäfer Z, Walch A, Hinterseer M, Näbauer M, Kääb S, Kastrati A, Schömig A, Meitinger T, Bornkamm GW, Conrad M, von Beckerath N.

Eur Heart J. 2011 May;32(9):1121-33. doi: 10.1093/eurheartj/ehq507. Epub 2011 Jan 18.

PubMed [citation]
PMID:
21247928

Details of each submission

From Ambry Genetics, SCV000736491.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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

Last Updated: Oct 6, 2021

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