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NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter) AND Pyruvate dehydrogenase E1-alpha deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 26, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001775482.1

Allele description [Variation Report for NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter)]

NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter)

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.624C>A (p.Tyr208Ter)
HGVS:
  • NC_000023.11:g.19355369C>A
  • NG_016781.1:g.16477C>A
  • NM_000284.4:c.624C>AMANE SELECT
  • NM_001173454.2:c.738C>A
  • NM_001173455.2:c.645C>A
  • NM_001173456.2:c.531C>A
  • NP_000275.1:p.Tyr208Ter
  • NP_001166925.1:p.Tyr246Ter
  • NP_001166926.1:p.Tyr215Ter
  • NP_001166927.1:p.Tyr177Ter
  • NC_000023.10:g.19373487C>A
  • NM_000284.3:c.624C>A
Protein change:
Y177*
Links:
dbSNP: rs2147180742
NCBI 1000 Genomes Browser:
rs2147180742
Molecular consequence:
  • NM_000284.4:c.624C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001173454.2:c.738C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001173455.2:c.645C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001173456.2:c.531C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Pyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Synonyms:
X-linked Leigh syndrome; ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY; ATAXIA WITH LACTIC ACIDOSIS I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010717; MedGen: C1839413; OMIM: 312170

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002012483HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 26, 2021) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - CSER-SouthSeq, SCV002012483.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

ACMG codes: PVS1; PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023