NM_001277062.2(MFF):c.375_376del (p.Glu127fs) AND Encephalopathy due to defective mitochondrial and peroxisomal fission 2

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 15, 2018
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:: RCV000239645.4

Allele description [Variation Report for NM_001277062.2(MFF):c.375_376del (p.Glu127fs)]

NM_001277062.2(MFF):c.375_376del (p.Glu127fs)

Gene:

MFF:mitochondrial fission factor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q36.3

Genomic location:

Preferred name:

NM_001277062.2(MFF):c.375_376del (p.Glu127fs)

HGVS:

NC_000002.12:g.227340315_227340316del
NG_033153.1:g.20165_20166del
NM_001277061.2:c.453_454del
NM_001277062.2:c.375_376delMANE SELECT
NM_001277063.2:c.375_376del
NM_001277064.2:c.375_376del
NM_001277065.2:c.375_376del
NM_001277066.2:c.375_376del
NM_001277067.1:c.225_226del
NM_001277068.1:c.375_376del
NM_020194.5:c.453_454del
NP_001263990.1:p.Glu153fs
NP_001263991.1:p.Glu127fs
NP_001263992.1:p.Glu127fs
NP_001263993.1:p.Glu127fs
NP_001263994.1:p.Glu127fs
NP_001263995.1:p.Glu127fs
NP_001263996.1:p.Glu77fs
NP_001263997.1:p.Glu127fs
NP_064579.3:p.Glu153fs
NC_000002.11:g.228205031_228205032del
NR_102266.2:n.371_372del

Protein change:

E127fs

Links:

OMIM: 614785.0004; dbSNP: rs879255690

NCBI 1000 Genomes Browser:

rs879255690

Molecular consequence:

NM_001277061.2:c.453_454del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001277062.2:c.375_376del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001277063.2:c.375_376del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001277064.2:c.375_376del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001277065.2:c.375_376del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001277066.2:c.375_376del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001277067.1:c.225_226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001277068.1:c.375_376del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_020194.5:c.453_454del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_102266.2:n.371_372del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000298173	OMIM	no assertion criteria provided	Pathogenic (Aug 25, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002764791	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Jan 15, 2018)	inherited	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000298173

OMIM

no assertion criteria provided

Pathogenic
(Aug 25, 2016)

germline

literature only

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

SCV002764791

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Jan 15, 2018)

inherited

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	inherited	yes	1	not provided	not provided	not provided	not provided	clinical testing

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, SCV000298173.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 brothers, born of consanguineous Turkish parents, with encephalopathy due to defective mitochondrial and peroxisomal fission-2 (EMPF2; 617086), Koch et al. (2016) identified a homozygous 2-bp deletion (c.453_454del) in the MFF gene, resulting in a frameshift and premature termination (Glu153AlafsTer5). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the dbSNP, Exome Variant Server, or ExAC databases (August 2015).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV002764791.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 20, 2024

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