U.S. flag

An official website of the United States government

NM_153689.6(C2orf69):c.280del (p.Glu94fs) AND Combined oxidative phosphorylation deficiency 53

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 9, 2021
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:
RCV001533285.1

Allele description [Variation Report for NM_153689.6(C2orf69):c.280del (p.Glu94fs)]

NM_153689.6(C2orf69):c.280del (p.Glu94fs)

Gene:
C2orf69:chromosome 2 open reading frame 69 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q33.1
Genomic location:
Preferred name:
NM_153689.6(C2orf69):c.280del (p.Glu94fs)
Other names:
C2ORF69, 1-BP DEL, 280G
HGVS:
  • NC_000002.12:g.199911718del
  • NM_153689.6:c.280delMANE SELECT
  • NP_710156.3:p.Glu94fs
  • NC_000002.11:g.200776441del
  • NM_153689.5:c.280delG
Protein change:
E94fs
Links:
OMIM: 619219.0003; dbSNP: rs2106636277
NCBI 1000 Genomes Browser:
rs2106636277
Molecular consequence:
  • NM_153689.6:c.280del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Combined oxidative phosphorylation deficiency 53 (COXPD53)
Synonyms:
GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE MICROCEPHALY, STRUCTURAL BRAIN ABNORMALITIES, AND AUTOINFLAMMATION; ELBRACHT-ISIKAY SYNDROME
Identifiers:
MONDO: MONDO:0030378; MedGen: C5543631; OMIM: 619423

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
SCV001749102OMIM
no assertion criteria provided
Pathogenic
(Jul 9, 2021) 		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

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.

Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, et al.

Am J Hum Genet. 2021 Jul 1;108(7):1301-1317. doi: 10.1016/j.ajhg.2021.05.003. Epub 2021 May 25. Erratum in: Am J Hum Genet. 2021 Jul 1;108(7):1356. doi: 10.1016/j.ajhg.2021.06.009.

PubMed [citation]
PMID:
34038740
PMCID:
PMC8322802

Details of each submission

From OMIM, SCV001749102.1

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

Description

In a Tunisian patient (family 2), born to consanguineous parents, with combined oxidative phosphorylation deficiency-53 (COXPD53; 619423), Wong et al. (2021) identified homozygosity for a 1-bp deletion (c.280delG, NM_153689.5) in the C2ORF69 gene, resulting in a frameshift and premature termination (Glu94SerfsTer24). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. The mutation was not present in the gnomAD (v.2.1.1 and v.3.1) or TOPmed databases or in an in-house database consisting of more than 50,000 genomes/exomes.

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

Last Updated: Dec 24, 2023