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NM_000284.4(PDHA1):c.894A>G (p.Gly298=) AND Pyruvate dehydrogenase complex deficiency

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 11, 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:
RCV001826985.8

Allele description [Variation Report for NM_000284.4(PDHA1):c.894A>G (p.Gly298=)]

NM_000284.4(PDHA1):c.894A>G (p.Gly298=)

Gene:
PDHA1:pyruvate dehydrogenase E1 subunit alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.12
Genomic location:
Preferred name:
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)
HGVS:
  • NC_000023.11:g.19357714A>G
  • NG_016781.1:g.18822A>G
  • NM_000284.4:c.894A>GMANE SELECT
  • NM_001173454.2:c.1008A>G
  • NM_001173455.2:c.915A>G
  • NM_001173456.2:c.801A>G
  • NP_000275.1:p.Gly298=
  • NP_001166925.1:p.Gly336=
  • NP_001166926.1:p.Gly305=
  • NP_001166927.1:p.Gly267=
  • NC_000023.10:g.19375832A>G
  • NM_000284.3:c.894A>G
Links:
dbSNP: rs1329322647
NCBI 1000 Genomes Browser:
rs1329322647
Molecular consequence:
  • NM_000284.4:c.894A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001173454.2:c.1008A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001173455.2:c.915A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001173456.2:c.801A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Pyruvate dehydrogenase complex deficiency (PDHC)
Synonyms:
PDH DEFICIENCY; Pyruvate Dehydrogenase Complex Deficiency Disease; Pyruvate decarboxylase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019169; MedGen: C0034345; Orphanet: 765; Orphanet: 79243; OMIM: PS312170

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002076934Natera, Inc.
no assertion criteria provided
Likely benign
(Mar 11, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002076934.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024