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NM_000925.4(PDHB):c.494G>C (p.Trp165Ser) AND Pyruvate dehydrogenase E1-beta deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 24, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001257311.1

Allele description [Variation Report for NM_000925.4(PDHB):c.494G>C (p.Trp165Ser)]

NM_000925.4(PDHB):c.494G>C (p.Trp165Ser)

Gene:
PDHB:pyruvate dehydrogenase E1 subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p14.3
Genomic location:
Preferred name:
NM_000925.4(PDHB):c.494G>C (p.Trp165Ser)
HGVS:
  • NC_000003.12:g.58430752C>G
  • NG_016860.1:g.8101G>C
  • NM_000925.4:c.494G>CMANE SELECT
  • NM_001173468.2:c.440G>C
  • NM_001315536.2:c.440G>C
  • NP_000916.2:p.Trp165Ser
  • NP_001166939.1:p.Trp147Ser
  • NP_001302465.1:p.Trp147Ser
  • NC_000003.11:g.58416479C>G
  • NR_033384.2:n.600G>C
Protein change:
W147S; TRP165SER
Links:
OMIM: 179060.0007; dbSNP: rs2062912705
NCBI 1000 Genomes Browser:
rs2062912705
Molecular consequence:
  • NM_000925.4:c.494G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173468.2:c.440G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315536.2:c.440G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033384.2:n.600G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Pyruvate dehydrogenase E1-beta deficiency (PDHBD)
Identifiers:
MONDO: MONDO:0013580; MedGen: C3279841; Orphanet: 255138; Orphanet: 765; OMIM: 614111

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001433857OMIM
no assertion criteria provided
Pathogenic
(Sep 24, 2020) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.

Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA 3rd, Ficicioglu C, Hertecant J, Patel MS, Kerr DS.

Mol Genet Metab. 2008 Apr;93(4):371-80. doi: 10.1016/j.ymgme.2007.10.135. Epub 2008 Mar 4.

PubMed [citation]
PMID:
18164639

Details of each submission

From OMIM, SCV001433857.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.494G-C transversion in the PDHB gene, resulting in a trp165-to-ser (W165S) substitution, that was found in compound heterozygous state in a patient with pyruvate dehydrogenase E1-beta deficiency (PDHBD; 614111) by Okajima et al. (2008), see 179060.0006.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022