NM_000108.5(DLD):c.104dup (p.Tyr35Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 29, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001591045.3

Allele description [Variation Report for NM_000108.5(DLD):c.104dup (p.Tyr35Ter)]

NM_000108.5(DLD):c.104dup (p.Tyr35Ter)

Gene:
DLD:dihydrolipoamide dehydrogenase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q31.1
Genomic location:
Preferred name:
NM_000108.5(DLD):c.104dup (p.Tyr35Ter)
HGVS:
  • NC_000007.14:g.107893264dup
  • NG_008045.1:g.7124dup
  • NM_000108.5:c.104dupMANE SELECT
  • NM_001289750.1:c.-45dup
  • NM_001289751.1:c.104dup
  • NM_001289752.1:c.104dup
  • NP_000099.2:p.Tyr35Ter
  • NP_001276680.1:p.Tyr35Ter
  • NP_001276681.1:p.Tyr35Ter
  • NC_000007.13:g.107533708_107533709insA
  • NC_000007.13:g.107533709dup
  • NM_000108.3:c.104dup
  • NM_000108.3:c.104dupA
  • NM_000108.4:c.104dup
  • NM_000108.4:c.104dupA
  • NM_000108.5:c.104dupAMANE SELECT
Protein change:
Y35*
Links:
OMIM: 238331.0003; dbSNP: rs753234219
NCBI 1000 Genomes Browser:
rs753234219
Molecular consequence:
  • NM_001289750.1:c.-45dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000108.5:c.104dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001289751.1:c.104dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001289752.1:c.104dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001817321GeneDxcriteria provided, single submitter
Pathogenic
(Sep 29, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001817321.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 9298831, 18362926, 23995961, 7815230, 15712224, 9934985, 20672374, 25356417, 8968745)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 6, 2021

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