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NM_005138.3(SCO2):c.179_188dup (p.Ile63fs) AND Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2002
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:
RCV000006037.4

Allele description [Variation Report for NM_005138.3(SCO2):c.179_188dup (p.Ile63fs)]

NM_005138.3(SCO2):c.179_188dup (p.Ile63fs)

Genes:
NCAPH2:non-SMC condensin II complex subunit H2 [Gene - OMIM - HGNC]
SCO2:synthesis of cytochrome C oxidase 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_005138.3(SCO2):c.179_188dup (p.Ile63fs)
HGVS:
  • NC_000022.11:g.50524224_50524233dup
  • NG_011860.1:g.10853_10862dup
  • NG_016235.1:g.7207_7216dup
  • NG_021419.1:g.21009_21018dup
  • NM_001169109.2:c.179_188dup
  • NM_001169110.1:c.179_188dup
  • NM_001169111.2:c.179_188dup
  • NM_001185011.2:c.*849_*858dup
  • NM_005138.3:c.179_188dupMANE SELECT
  • NM_152299.4:c.*849_*858dupMANE SELECT
  • NP_001162580.1:p.Ile63fs
  • NP_001162581.1:p.Ile63fs
  • NP_001162582.1:p.Ile63fs
  • NP_005129.2:p.Ile63fs
  • LRG_727:g.10853_10862dup
  • NC_000022.10:g.50962653_50962662dup
Note:
NCBI staff established an HGVS expression for this duplication based on Figure 2 of the paper by Salviati et al., 2002 (PubMed 12020273).
Protein change:
I63fs
Links:
OMIM: 604272.0006; dbSNP: rs1467767014
NCBI 1000 Genomes Browser:
rs1467767014
Molecular consequence:
  • NM_001185011.2:c.*849_*858dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152299.4:c.*849_*858dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001169109.2:c.179_188dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001169110.1:c.179_188dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001169111.2:c.179_188dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005138.3:c.179_188dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (MC4DN2)
Synonyms:
CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
Identifiers:
MONDO: MONDO:0011451; MedGen: C5399977; Orphanet: 1561; OMIM: 604377

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026219OMIM
no assertion criteria provided
Pathogenic
(May 1, 2002) 		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

Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.

Salviati L, Sacconi S, Rasalan MM, Kronn DF, Braun A, Canoll P, Davidson M, Shanske S, Bonilla E, Hays AP, Schon EA, DiMauro S.

Arch Neurol. 2002 May;59(5):862-5. Erratum in: Arch Neurol. 2003 May;60(5):749.

PubMed [citation]
PMID:
12020273

Details of each submission

From OMIM, SCV000026219.3

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

Description

For discussion of the 10-bp duplication (c.1302_1311dup) in the SCO2 gene that was found in compound heterozygous state in a patient with mitochondrial complex IV deficiency nuclear type 2 (MC4DN2; 604377) by Salviati et al. (2002), see 604272.0002.

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

Last Updated: Sep 1, 2024