NM_002488.5(NDUFA2):c.225del (p.Asn76fs) AND Mitochondrial complex 1 deficiency, nuclear type 13

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 17, 2020
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:: RCV001256007.1

Allele description [Variation Report for NM_002488.5(NDUFA2):c.225del (p.Asn76fs)]

NM_002488.5(NDUFA2):c.225del (p.Asn76fs)

Genes:

NDUFA2:NADH:ubiquinone oxidoreductase subunit A2 [Gene - OMIM - HGNC]
TMCO6:transmembrane and coiled-coil domains 6 [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

5q31.3

Genomic location:

Preferred name:

NM_002488.5(NDUFA2):c.225del (p.Asn76fs)

HGVS:

NC_000005.10:g.140645662del
NG_021417.1:g.7124del
NM_001185012.2:c.*41del
NM_002488.5:c.225delMANE SELECT
NP_002479.1:p.Asn76fs
NP_002479.1:p.Asn76fs
NC_000005.9:g.140025247del
NM_002488.4:c.225del
NM_002488.4:c.225del
NM_002488.4:c.225delG
NR_033697.2:n.392del
p.N76MfsX4

Protein change:

N76fs

Links:

OMIM: 602137.0003; dbSNP: rs863224084

NCBI 1000 Genomes Browser:

rs863224084

Molecular consequence:

NM_001185012.2:c.*41del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_002488.5:c.225del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_033697.2:n.392del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Mitochondrial complex 1 deficiency, nuclear type 13
Synonyms:: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13
Identifiers:: MONDO: MONDO:0032618; MedGen: C4748770; OMIM: 618235

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001432784	OMIM	no assertion criteria provided	Pathogenic (Sep 17, 2020)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001432784

OMIM

no assertion criteria provided

Pathogenic
(Sep 17, 2020)

germline

literature only

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

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

Citations

PubMed

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.

Perrier S, Gauquelin L, Tétreault M, Tran LT, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello MJ, Simons C; Care4Rare Canada Consortium., Vanderver A, Bernard G.

Clin Genet. 2018 Feb;93(2):396-400. doi: 10.1111/cge.13126. Epub 2017 Dec 21.

PubMed [citation]

PMID:: 28857146

Details of each submission

From OMIM, SCV001432784.1

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

Description

For discussion of the 1-bp deletion (c.225del, NM_002488.4) in the NDUFA2 gene, resulting in a frameshift and premature termination (Asn76MetfsTer4), that was found in compound heterozygous state in a patient with mitochondrial complex I deficiency nuclear type 13 (MC1DN13; 618235) by Perrier et al. (2018), see 602137.0002.

#	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

Last Updated: Jul 23, 2024

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