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NM_006440.5(TXNRD2):c.230-168_230-167del

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 12, 2019)
Last evaluated:
Jun 15, 2018
Accession:
VCV000678661.1
Variation ID:
678661
Description:
2bp deletion
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NM_006440.5(TXNRD2):c.230-168_230-167del

Allele ID
669524
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
22q11.21
Genomic location
22: 19919171-19919172 (GRCh38) GRCh38 UCSC
22: 19906694-19906695 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.19906695_19906696del
NC_000022.11:g.19919172_19919173del
NM_006440.5:c.230-168_230-167del MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000022.11:19919170:ACA:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.17991 (A)

Allele frequency
-
Links
dbSNP: rs146802029
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jun 15, 2018 RCV000838263.1
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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
Benign
(Jun 15, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000980128.1
Submitted: (Apr 12, 2019)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (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 rs146802029...

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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 Feb 27, 2021