U.S. flag

An official website of the United States government

NM_017547.4(FOXRED1):c.608_609del (p.Glu203fs) AND Leigh syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001249212.1

Allele description [Variation Report for NM_017547.4(FOXRED1):c.608_609del (p.Glu203fs)]

NM_017547.4(FOXRED1):c.608_609del (p.Glu203fs)

Gene:
FOXRED1:FAD dependent oxidoreductase domain containing 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11q24.2
Genomic location:
Preferred name:
NM_017547.4(FOXRED1):c.608_609del (p.Glu203fs)
HGVS:
  • NC_000011.10:g.126274996AG[1]
  • NC_000011.10:g.126274996_126274997del
  • NG_028029.1:g.10957AG[1]
  • NM_017547.4:c.608_609delMANE SELECT
  • NP_060017.1:p.Glu203fs
  • NC_000011.9:g.126144891AG[1]
  • NC_000011.9:g.126144891_126144892del
  • NM_017547.4:c.606_607delMANE SELECT
  • NR_037647.2:n.438AG[1]
  • NR_037648.2:n.783AG[1]
Protein change:
E203fs
Links:
dbSNP: rs1189650128
NCBI 1000 Genomes Browser:
rs1189650128
Molecular consequence:
  • NM_017547.4:c.608_609del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_037647.2:n.438AG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_037648.2:n.783AG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Leigh syndrome (NULS)
Synonyms:
Leigh Disease; Subacute necrotizing encephalopathy; Necrotizing encephalopathy infantile subacute of Leigh; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009723; MedGen: C0023264; Orphanet: 506; OMIM: 256000

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001422466The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 1, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
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 The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University, SCV001422466.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024