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NM_006440.5(TXNRD2):c.855G>A (p.Arg285=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 2, 2022
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:
RCV002447857.2

Allele description [Variation Report for NM_006440.5(TXNRD2):c.855G>A (p.Arg285=)]

NM_006440.5(TXNRD2):c.855G>A (p.Arg285=)

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.855G>A (p.Arg285=)
HGVS:
  • NC_000022.11:g.19895501C>T
  • NG_011835.1:g.51336G>A
  • NM_001282512.3:c.855G>A
  • NM_001352300.2:c.852G>A
  • NM_001352301.2:c.765G>A
  • NM_001352302.2:c.567G>A
  • NM_001352303.2:c.759G>A
  • NM_006440.5:c.855G>AMANE SELECT
  • NP_001269441.1:p.Arg285=
  • NP_001339229.1:p.Arg284=
  • NP_001339230.1:p.Arg255=
  • NP_001339231.1:p.Arg189=
  • NP_001339232.1:p.Arg253=
  • NP_006431.2:p.Arg285=
  • NP_006431.2:p.Arg285=
  • LRG_417t1:c.855G>A
  • LRG_417:g.51336G>A
  • LRG_417p1:p.Arg285=
  • NC_000022.10:g.19883024C>T
  • NM_006440.3:c.855G>A
  • NR_147957.2:n.813G>A
Molecular consequence:
  • NR_147957.2:n.813G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001282512.3:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352300.2:c.852G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352301.2:c.765G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352302.2:c.567G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352303.2:c.759G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_006440.5:c.855G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002676798Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 2, 2022) 		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, SCV002676798.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 1, 2024