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NM_000460.4(THPO):c.639T>A (p.Thr213=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 29, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000289179.3
Variation ID:
289179
Description:
single nucleotide variant
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NM_000460.4(THPO):c.639T>A (p.Thr213=)

Allele ID
273416
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q27.1
Genomic location
3: 184372936 (GRCh38) GRCh38 UCSC
3: 184090724 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.184090724A>T
NC_000003.12:g.184372936A>T
NM_000460.4:c.639T>A MANE Select NP_000451.1:p.Thr213= synonymous
... more HGVS
Protein change
Y208N, Y175N
Other names
-
Canonical SPDI
NC_000003.12:184372935:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00069
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00038
Trans-Omics for Precision Medicine (TOPMed) 0.00061
The Genome Aggregation Database (gnomAD), exomes 0.00055
Exome Aggregation Consortium (ExAC) 0.00055
Links
dbSNP: rs1042348
ClinGen: CA2734900
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 31, 2019 RCV000349247.3
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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
63 101

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 19, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000343489.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001096399.2
Submitted: (Jan 29, 2020)
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=THPO - - - -

Text-mined citations for rs1042348...

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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 30, 2020