U.S. flag

An official website of the United States government

NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs) AND Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 26, 2022
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:
RCV002288836.2

Allele description [Variation Report for NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs)]

NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs)

Genes:
NCAPH2:non-SMC condensin II complex subunit H2 [Gene - OMIM - HGNC]
SCO2:synthesis of cytochrome C oxidase 2 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs)
HGVS:
  • NC_000022.11:g.50524395_50524396insTGAGTCACTGCTGCATGCT
  • NG_011860.1:g.10690_10691insAGCATGCAGCAGTGACTCA
  • NG_016235.1:g.7044_7045insAGCATGCAGCAGTGACTCA
  • NG_021419.1:g.21180_21181insTGAGTCACTGCTGCATGCT
  • NM_001169109.2:c.16_17insAGCATGCAGCAGTGACTCA
  • NM_001169110.1:c.16_17insAGCATGCAGCAGTGACTCA
  • NM_001169111.2:c.16_17insAGCATGCAGCAGTGACTCA
  • NM_001185011.2:c.*1020_*1021insTGAGTCACTGCTGCATGCT
  • NM_005138.3:c.16_17insAGCATGCAGCAGTGACTCAMANE SELECT
  • NM_152299.4:c.*1020_*1021insTGAGTCACTGCTGCATGCTMANE SELECT
  • NP_001162580.1:p.Arg6fs
  • NP_001162580.1:p.Arg6fs
  • NP_001162581.1:p.Arg6fs
  • NP_001162582.1:p.Arg6fs
  • NP_005129.2:p.Arg6fs
  • NP_005129.2:p.Arg6fs
  • LRG_727:g.10690_10691insAGCATGCAGCAGTGACTCA
  • NC_000022.10:g.50962824_50962825insTGAGTCACTGCTGCATGCT
  • NM_001169109.1:c.16_17insAGCATGCAGCAGTGACTCA
  • NM_005138.2:c.16_17insAGCATGCAGCAGTGACTCA
Protein change:
R6fs
Links:
dbSNP: rs749838192
NCBI 1000 Genomes Browser:
rs749838192
Molecular consequence:
  • NM_001185011.2:c.*1020_*1021insTGAGTCACTGCTGCATGCT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152299.4:c.*1020_*1021insTGAGTCACTGCTGCATGCT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001169109.2:c.16_17insAGCATGCAGCAGTGACTCA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001169110.1:c.16_17insAGCATGCAGCAGTGACTCA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001169111.2:c.16_17insAGCATGCAGCAGTGACTCA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005138.3:c.16_17insAGCATGCAGCAGTGACTCA - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

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

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
SCV002581836MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 26, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not 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 MGZ Medical Genetics Center, SCV002581836.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 29, 2024