NM_004453.3(ETFDH):c.302_303dupGT (p.Leu102Valfs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 17, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000185904.1

Allele description [Variation Report for NM_004453.3(ETFDH):c.302_303dupGT (p.Leu102Valfs)]

NM_004453.3(ETFDH):c.302_303dupGT (p.Leu102Valfs)

Gene:
ETFDH:electron transfer flavoprotein dehydrogenase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4q32.1
Genomic location:
Preferred name:
NM_004453.3(ETFDH):c.302_303dupGT (p.Leu102Valfs)
HGVS:
  • NC_000004.12:g.158682321_158682322dupGT
  • NG_007078.2:g.14980_14981dup
  • NM_004453.3:c.302_303dupGT
  • NP_004444.2:p.Leu102Valfs
  • NC_000004.11:g.159603473_159603474dupGT
  • NM_004453.2:c.302_303dupGT
  • p.L102VfsX2
Links:
dbSNP: rs796051962
NCBI 1000 Genomes Browser:
rs796051962
Molecular consequence:
  • NM_004453.3:c.302_303dupGT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000238857GeneDxcriteria provided, single submitter
Pathogenic
(Oct 17, 2013)
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, SCV000238857.2

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

Description

The c.302_303dupGT, the normal sequence with the bases that are duplicated in braces is CGTGTGT[GT]CTAGT. The mutation causes a frameshift starting with codon Leucine 102, changes this amino acid to a Valine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Leu102ValfsX2. This mutation is predicted to cause loss of normal protein function through protein truncation. Although this mutation has not been previously reported to our knowledge, it is expected to be a pathogenic mutation. The variant is found in ETFDH panel(s).

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

Last Updated: Mar 30, 2019

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