NM_002225.5(IVD):c.498del (p.Glu166fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 21, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000790681.1

Allele description [Variation Report for NM_002225.5(IVD):c.498del (p.Glu166fs)]

NM_002225.5(IVD):c.498del (p.Glu166fs)

Gene:
IVD:isovaleryl-CoA dehydrogenase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q15.1
Genomic location:
Preferred name:
NM_002225.5(IVD):c.498del (p.Glu166fs)
HGVS:
  • NC_000015.10:g.40411301del
  • NG_011986.2:g.10817del
  • NM_001159508.3:c.408del
  • NM_001354597.3:c.450del
  • NM_001354598.3:c.498del
  • NM_001354599.3:c.585del
  • NM_001354600.3:c.585del
  • NM_001354601.3:c.498del
  • NM_002225.5:c.498delMANE SELECT
  • NP_001152980.2:p.Glu136fs
  • NP_001341526.1:p.Glu150fs
  • NP_001341527.2:p.Glu166fs
  • NP_001341528.2:p.Glu195fs
  • NP_001341529.2:p.Glu195fs
  • NP_001341530.2:p.Glu166fs
  • NP_002216.3:p.Glu166fs
  • NC_000015.9:g.40703500del
  • NC_000015.9:g.40703500delG
  • NM_002225.3:c.507del
  • NM_002225.3:c.507delG
  • NR_148925.2:n.910del
Protein change:
E136fs
Links:
dbSNP: rs398123684
NCBI 1000 Genomes Browser:
rs398123684
Molecular consequence:
  • NM_001159508.3:c.408del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354597.3:c.450del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354598.3:c.498del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354599.3:c.585del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354600.3:c.585del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354601.3:c.498del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002225.5:c.498del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_148925.2:n.910del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
4

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000231028EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Aug 21, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown4not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000231028.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

Last Updated: Nov 27, 2021

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