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NM_000925.4(PDHB):c.1002T>C (p.Tyr334=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 22, 2019
Accession:
VCV000991896.2
Variation ID:
991896
Description:
single nucleotide variant
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NM_000925.4(PDHB):c.1002T>C (p.Tyr334=)

Allele ID
977984
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p14.3
Genomic location
3: 58428112 (GRCh38) GRCh38 UCSC
3: 58413839 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.58413839A>G
NC_000003.12:g.58428112A>G
NG_016860.1:g.10741T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:58428111:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 22, 2019 RCV001431086.1
Uncertain significance 1 no assertion criteria provided Oct 15, 2020 RCV001280182.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PDHB - - GRCh38
GRCh37
163 173

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 22, 2019)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase E1-beta deficiency
Allele origin: germline
Invitae
Accession: SCV001633837.1
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Oct 15, 2020)
no assertion criteria provided
Method: clinical testing
Pyruvate decarboxylase deficiency
Allele origin: germline
Natera, Inc.
Accession: SCV001467342.1
Submitted: (Dec 28, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021