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NM_003477.3(PDHX):c.742C>T (p.Gln248Ter)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Feb 1, 2007
Accession:
VCV000002118.2
Variation ID:
2118
Description:
single nucleotide variant
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NM_003477.3(PDHX):c.742C>T (p.Gln248Ter)

Allele ID
17157
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p13
Genomic location
11: 34966740 (GRCh38) GRCh38 UCSC
11: 34988287 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.34988287C>T
NG_013368.1:g.55611C>T
NM_001135024.2:c.562C>T NP_001128496.2:p.Gln188Ter nonsense
... more HGVS
Protein change
Q248*, Q188*
Other names
-
Canonical SPDI
NC_000011.10:34966739:C:T
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
ClinGen: CA115356
OMIM: 608769.0008
dbSNP: rs113309941
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Feb 1, 2007 RCV000002199.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PDHX - - GRCh38
GRCh37
188 228

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 01, 2007)
no assertion criteria provided
Method: literature only
PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000022357.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element. Miné M Human mutation 2007 PMID: 17152059

Text-mined citations for rs113309941...

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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