NM_004453.3(ETFDH):c.1375C>T (p.His459Tyr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000185900.1

Allele description [Variation Report for NM_004453.3(ETFDH):c.1375C>T (p.His459Tyr)]

NM_004453.3(ETFDH):c.1375C>T (p.His459Tyr)

Gene:
ETFDH:electron transfer flavoprotein dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q32.1
Genomic location:
Preferred name:
NM_004453.3(ETFDH):c.1375C>T (p.His459Tyr)
Other names:
p.H459Y:CAC>TAC
HGVS:
  • NC_000004.12:g.158706278C>T
  • NG_007078.2:g.38937C>T
  • NM_004453.3:c.1375C>T
  • NP_004444.2:p.His459Tyr
  • NC_000004.11:g.159627430C>T
  • NM_004453.2:c.1375C>T
Protein change:
H459Y
Links:
dbSNP: rs200111698
NCBI 1000 Genomes Browser:
rs200111698
Molecular consequence:
  • NM_004453.3:c.1375C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000238853GeneDxcriteria provided, single submitter
Uncertain significance
(Apr 24, 2017)
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, SCV000238853.10

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

Description

The H459Y missense change has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The 1000 Genomes Database reports H459Y was observed in 2/186 (1.08%) alleles from individuals of Finnish background. The amino acid change is non-conservative in that a positively charged Histidine residue is replaced by an uncharged Tyrosine residue. This change occurs at a highly conserved position in the ETFDH protein, and multiple in-silico analysis models predict that H459Y is damaging to the ETFDH protein. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Apr 19, 2019

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