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NM_000460.4(THPO):c.183G>T (p.Leu61=)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 24, 2018
Accession:
VCV000497712.4
Variation ID:
497712
Description:
single nucleotide variant
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NM_000460.4(THPO):c.183G>T (p.Leu61=)

Allele ID
489136
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q27.1
Genomic location
3: 184093348 (GRCh37) GRCh37 UCSC
3: 184375560 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_580:g.7585G>T
LRG_580t1:c.183G>T LRG_580p1:p.Leu61=
NC_000003.11:g.184093348C>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:184375559:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00007
The Genome Aggregation Database (gnomAD), exomes 0.00006
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
ClinGen: CA2735027
dbSNP: rs200666378
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 Jan 24, 2018 RCV000592889.3
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001144549.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
THPO - - GRCh38
GRCh37
69 108

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Jan 24, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Eurofins NTD, LLC
Accession: SCV000702383.2
Submitted: (Sep 19, 2018)
Other databases
http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=THPO
Number of individuals with the variant: 2
Zygosity: 2 Single Heterozygote
Sex: mixed
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Thrombocythemia 1
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV001305159.1
Submitted: (Feb 20, 2020)
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=THPO - - - -

Text-mined citations for rs200666378...

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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 Jan 08, 2022