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NM_000108.5(DLD):c.1080_1086dup (p.Ala363fs) AND Pyruvate dehydrogenase E3 deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 6, 2023
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:
RCV003466199.1

Allele description [Variation Report for NM_000108.5(DLD):c.1080_1086dup (p.Ala363fs)]

NM_000108.5(DLD):c.1080_1086dup (p.Ala363fs)

Gene:
DLD:dihydrolipoamide dehydrogenase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q31.1
Genomic location:
Preferred name:
NM_000108.5(DLD):c.1080_1086dup (p.Ala363fs)
HGVS:
  • NC_000007.14:g.107917306_107917312dup
  • NG_008045.1:g.31166_31172dup
  • NM_000108.5:c.1080_1086dupMANE SELECT
  • NM_001289750.1:c.783_789dup
  • NM_001289751.1:c.1011_1017dup
  • NM_001289752.1:c.936_942dup
  • NP_000099.2:p.Ala363fs
  • NP_001276679.1:p.Ala264fs
  • NP_001276680.1:p.Ala340fs
  • NP_001276681.1:p.Ala315fs
  • NC_000007.13:g.107557751_107557757dup
Protein change:
A264fs
Molecular consequence:
  • NM_000108.5:c.1080_1086dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001289750.1:c.783_789dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001289751.1:c.1011_1017dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001289752.1:c.936_942dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Pyruvate dehydrogenase E3 deficiency (DLDD)
Synonyms:
MAPLE SYRUP URINE DISEASE, TYPE III; DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; Maple syrup urine disease, type 3; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009529; MedGen: C5574660; Orphanet: 2394; Orphanet: 765; OMIM: 246900

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    Transcriptome analysis of Liangshan pig muscle development at the growth curve inflection point and asymptotic stages using digital gene expression profiling
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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004193973Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 6, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

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

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 Baylor Genetics, SCV004193973.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024