NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs) AND Pyruvate dehydrogenase E1-alpha deficiency

Clinical significance:Pathogenic (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000990498.1

Allele description [Variation Report for NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs)]

NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs)

Gene:
PDHA1:pyruvate dehydrogenase E1 subunit alpha 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp22.12
Genomic location:
Preferred name:
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs)
HGVS:
  • NC_000023.11:g.19355748_19355752dup
  • NG_016781.1:g.16856_16860dup
  • NM_000284.4:c.822_826dupMANE SELECT
  • NM_001173454.2:c.936_940dup
  • NM_001173455.2:c.843_847dup
  • NM_001173456.2:c.729_733dup
  • NP_000275.1:p.Gly276fs
  • NP_001166925.1:p.Gly314fs
  • NP_001166926.1:p.Gly283fs
  • NP_001166927.1:p.Gly245fs
  • NC_000023.10:g.19373864_19373865insGATCT
  • NC_000023.10:g.19373866_19373870dup
Protein change:
G245fs
Links:
dbSNP: rs1602228017
NCBI 1000 Genomes Browser:
rs1602228017
Molecular consequence:
  • NM_000284.4:c.822_826dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001173454.2:c.936_940dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001173455.2:c.843_847dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001173456.2:c.729_733dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001141502Mendelicscriteria provided, single submitter
Pathogenic
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001141502.1

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

Last Updated: Nov 27, 2021

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