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NM_000284.4(PDHA1):c.*392G>A

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 12, 2018
Accession:
VCV000913341.2
Variation ID:
913341
Description:
single nucleotide variant
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NM_000284.4(PDHA1):c.*392G>A

Allele ID
902953
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp22.12
Genomic location
X: 19360045 (GRCh38) GRCh38 UCSC
X: 19378163 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.19378163G>A
NC_000023.11:g.19360045G>A
NG_016781.1:g.21153G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:19360044:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.02040 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.02010
1000 Genomes Project 0.02040
Trans-Omics for Precision Medicine (TOPMed) 0.02045
The Genome Aggregation Database (gnomAD) 0.02182
Links
dbSNP: rs56318063
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 Jan 12, 2018 RCV001166916.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PDHA1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
325 531

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase E1-alpha deficiency
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV001329342.1
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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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 rs56318063...

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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