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NM_006440.5(TXNRD2):c.1465C>T (p.Gln489Ter)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Aug 27, 2018
Accession:
VCV000663710.1
Variation ID:
663710
Description:
single nucleotide variant
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NM_006440.5(TXNRD2):c.1465C>T (p.Gln489Ter)

Allele ID
649189
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q11.21
Genomic location
22: 19877215 (GRCh38) GRCh38 UCSC
22: 19864738 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.19864738G>A
NC_000022.11:g.19877215G>A
NM_006440.5:c.1465C>T MANE Select NP_006431.2:p.Gln489Ter nonsense
... more HGVS
Protein change
Q393*, Q489*, Q459*, Q488*
Other names
-
Canonical SPDI
NC_000022.11:19877214:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs759650391
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 Aug 27, 2018 RCV000821643.1
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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
(Aug 27, 2018)
criteria provided, single submitter
Method: clinical testing
Primary dilated cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV000962412.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Gln489*) in the TXNRD2 gene. It is expected to result in an absent or disrupted protein … (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 rs759650391...

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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 Jul 29, 2021