NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) AND Inborn genetic diseases

Clinical significance:Pathogenic (Last evaluated: May 11, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000624104.1

Allele description [Variation Report for NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)]

NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)

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.1142_1145dup (p.Trp383fs)
Other names:
NM_000284.4(PDHA1):c.1142_1145dup; p.Trp383fs
HGVS:
  • NC_000023.11:g.19359622_19359625dup
  • NG_016781.1:g.20730_20733dup
  • NG_021184.1:g.160639_160642dup
  • NM_000284.4:c.1142_1145dupMANE SELECT
  • NM_001173454.1:c.1256_1259dup
  • NM_001173454.2:c.1256_1259dup
  • NM_001173455.2:c.1163_1166dup
  • NM_001173456.2:c.1049_1052dup
  • NP_000275.1:p.Trp383fs
  • NP_001166925.1:p.Trp421fs
  • NP_001166925.1:p.Trp421fs
  • NP_001166926.1:p.Trp390fs
  • NP_001166927.1:p.Trp352fs
  • NC_000023.10:g.19377740_19377743dup
  • NM_000284.3:c.1142_1145dupATCA
  • p.W383SfsX6
Note:
NCBI staff reviewed the sequence information reported in PubMed 1338114 Fig. 2 to determine the location of this insertion on the current reference sequence.
Protein change:
W352fs
Links:
OMIM: 300502.0010; dbSNP: rs606231189
NCBI 1000 Genomes Browser:
rs606231189
Molecular consequence:
  • NM_000284.4:c.1142_1145dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001173454.1:c.1256_1259dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001173454.2:c.1256_1259dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001173455.2:c.1163_1166dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001173456.2:c.1049_1052dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742395Ambry Geneticscriteria provided, single submitter
Pathogenic
(May 11, 2017)
germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing
Hispanicgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

DeBrosse SD, Okajima K, Zhang S, Nakouzi G, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS.

Mol Genet Metab. 2012 Nov;107(3):394-402. doi: 10.1016/j.ymgme.2012.09.001. Epub 2012 Sep 7.

PubMed [citation]
PMID:
23021068

A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency.

Endo H, Miyabayashi S, Tada K, Narisawa K.

J Inherit Metab Dis. 1991;14(5):793-9. No abstract available.

PubMed [citation]
PMID:
1779625
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000742395.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (7)
2Hispanic1not providednot providedclinical testing PubMed (7)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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