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NM_006440.5(TXNRD2):c.903C>T (p.Thr301=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 28, 2021)
Last evaluated:
Nov 10, 2020
Accession:
VCV000263603.6
Variation ID:
263603
Description:
single nucleotide variant
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NM_006440.5(TXNRD2):c.903C>T (p.Thr301=)

Allele ID
259127
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q11.21
Genomic location
22: 19895453 (GRCh38) GRCh38 UCSC
22: 19882976 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.19882976G>A
LRG_417:g.51384C>T
LRG_417t1:c.903C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000022.11:19895452:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01238 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00032
Links
ClinGen: CA10103951
dbSNP: rs35695986
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Sep 7, 2016 RCV000247540.2
Likely benign 1 criteria provided, single submitter Apr 1, 2020 RCV000842503.2
Likely benign 1 criteria provided, single submitter Nov 10, 2020 RCV001398752.1
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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
Likely benign
(Sep 07, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000318615.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Likely benign
(Nov 10, 2020)
criteria provided, single submitter
Method: clinical testing
Primary dilated cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV001600527.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Apr 01, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000984526.2
Submitted: (Sep 28, 2021)
Evidence details

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 rs35695986...

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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 24, 2021