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NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 6, 2020
Accession:
VCV000222882.3
Variation ID:
222882
Description:
single nucleotide variant
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NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln)

Allele ID
224574
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q11.21
Genomic location
22: 19918998 (GRCh38) GRCh38 UCSC
22: 19906521 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.19906521C>T
NC_000022.11:g.19918998C>T
NG_011835.1:g.27839G>A
... more HGVS
Protein change
R79Q, R49Q, R78Q, R47Q
Other names
-
Canonical SPDI
NC_000022.11:19918997:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00015
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00017
Links
ClinGen: CA068118
dbSNP: rs373979810
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 2, 2015 RCV000208059.1
Uncertain significance 1 criteria provided, single submitter Jun 6, 2020 RCV001036279.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TXNRD2 - - GRCh38
GRCh37
355 753

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 02, 2015)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Blueprint Genetics
Accession: SCV000264309.2
Submitted: (Jan 15, 2016)
Evidence details
Uncertain significance
(Jun 06, 2020)
criteria provided, single submitter
Method: clinical testing
Primary dilated cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV001199634.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with glutamine at codon 79 of the TXNRD2 protein (p.Arg79Gln). The arginine residue is weakly conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs373979810...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021