NM_004453.2(ETFDH):c.1367C>T AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 27, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000081077.6

Allele description [Variation Report for NM_004453.2(ETFDH):c.1367C>T]

NM_004453.3(ETFDH):c.1367C>T (p.Pro456Leu)

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.1367C>T (p.Pro456Leu)
Other names:
p.P456L:CCG>CTG
HGVS:
  • NC_000004.12:g.158706270C>T
  • NG_007078.2:g.38929C>T
  • NM_004453.3:c.1367C>T
  • NP_004444.2:p.Pro456Leu
  • NC_000004.11:g.159627422C>T
  • NM_004453.2:c.1367C>T
  • Q16134:p.Pro456Leu
Protein change:
P456L
Links:
UniProtKB: Q16134#VAR_075455; dbSNP: rs398124152
NCBI 1000 Genomes Browser:
rs398124152
Molecular consequence:
  • NM_004453.3:c.1367C>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
SCV000238852GeneDxcriteria provided, single submitter
Pathogenic
(Oct 27, 2016)
germlineclinical testing

Citation Link,

SCV000281023Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Pathogenic
(Jun 10, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot 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 GeneDx, SCV000238852.11

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

Description

p.Pro456Leu (CCG>CTG): c.1367 C>T in exon 11 of the ETFDH gene (NM_004453.2) The P456L missense mutation in the ETFDH gene has been reported previously in association with glutaric aciduria type II (Goodman et al., 2002). The variant is found in FAO-MET panel(s).

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

From Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000281023.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.000069not providednot provided

Last Updated: Apr 19, 2019

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