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NM_001277062.2(MFF):c.106dup (p.Leu36fs) AND Encephalopathy due to defective mitochondrial and peroxisomal fission 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 25, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000239691.1

Allele description [Variation Report for NM_001277062.2(MFF):c.106dup (p.Leu36fs)]

NM_001277062.2(MFF):c.106dup (p.Leu36fs)

Gene:
MFF:mitochondrial fission factor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q36.3
Genomic location:
Preferred name:
NM_001277062.2(MFF):c.106dup (p.Leu36fs)
HGVS:
  • NC_000002.12:g.227330771dup
  • NG_033153.1:g.10621dup
  • NM_001277061.2:c.184dup
  • NM_001277062.2:c.106dupMANE SELECT
  • NM_001277063.2:c.106dup
  • NM_001277064.2:c.106dup
  • NM_001277065.2:c.106dup
  • NM_001277066.2:c.106dup
  • NM_001277067.1:c.-35-10dup
  • NM_001277068.1:c.106dup
  • NM_020194.5:c.184dup
  • NP_001263990.1:p.Leu62fs
  • NP_001263991.1:p.Leu36fs
  • NP_001263992.1:p.Leu36fs
  • NP_001263993.1:p.Leu36fs
  • NP_001263994.1:p.Leu36fs
  • NP_001263995.1:p.Leu36fs
  • NP_001263997.1:p.Leu36fs
  • NP_064579.3:p.Leu62fs
  • NC_000002.11:g.228195487dup
Protein change:
L36fs
Links:
OMIM: 614785.0002; dbSNP: rs886037862
NCBI 1000 Genomes Browser:
rs886037862
Molecular consequence:
  • NM_001277061.2:c.184dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001277062.2:c.106dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001277063.2:c.106dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001277064.2:c.106dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001277065.2:c.106dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001277066.2:c.106dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001277068.1:c.106dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_020194.5:c.184dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001277067.1:c.-35-10dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 (EMPF2)
Identifiers:
MONDO: MONDO:0014905; MedGen: C4310726; OMIM: 617086

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000298171OMIM
no assertion criteria provided
Pathogenic
(Aug 25, 2016) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.

Koch J, Feichtinger RG, Freisinger P, Pies M, Schrödl F, Iuso A, Sperl W, Mayr JA, Prokisch H, Haack TB.

J Med Genet. 2016 Apr;53(4):270-8. doi: 10.1136/jmedgenet-2015-103500. Epub 2016 Jan 18.

PubMed [citation]
PMID:
26783368

Details of each submission

From OMIM, SCV000298171.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an Austrian boy with encephalopathy due to defective mitochondrial and peroxisomal fission-2 (EMPF2; 617086), Koch et al. (2016) identified compound heterozygous truncating mutations in the MFF gene: a 1-bp duplication (c.184dup), resulting in a frameshift and premature termination (Leu62ProfsTer13), and a c.892C-T transition, resulting in an arg298-to-ter (R298X; 614785.0003) substitution. The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The c.184dup mutation was not found in the dbSNP, Exome Variant Server, or ExAC databases, but c.892C-T was found once in the ExAC database (August 2015).

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

Last Updated: Apr 23, 2022