SCO2
Basic information
Region (hg38): 22:50523568-50526461
Previous symbols: [ "MYP6" ]
Links
Phenotypes
GenCC
Source:
- cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (Definitive), mode of inheritance: AR
- autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect (Supportive), mode of inheritance: AR
- myopia 6 (Strong), mode of inheritance: AD
- cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (Strong), mode of inheritance: AR
- Leigh syndrome (Definitive), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Myopia 6; Mitochondrial complex IV deficiency, nuclear type 2 | AD/AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Biochemical; Cardiovascular; Musculoskeletal; Neurologic; Ophthalmologic | 10545952; 10749987; 12538779; 15210538; 18924171; 22231385; 23364397; 23643385 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (346 variants)
- Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1 (78 variants)
- Inborn_genetic_diseases (51 variants)
- Myopia_6 (27 variants)
- Mitochondrial_complex_IV_deficiency,_nuclear_type_1 (19 variants)
- not_specified (18 variants)
- SCO2-related_disorder (9 variants)
- Fatal_Infantile_Cardioencephalomyopathy (4 variants)
- Mitochondrial_DNA_depletion_syndrome_1 (3 variants)
- Alagille_syndrome_due_to_a_JAG1_point_mutation (1 variants)
- Tip-toe_gait (1 variants)
- Severe_global_developmental_delay (1 variants)
- Primary_dilated_cardiomyopathy (1 variants)
- Seizure (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SCO2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005138.3. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 156 | 159 | ||||
missense | 161 | 11 | 183 | |||
nonsense | 10 | 17 | ||||
start loss | 2 | 1 | 3 | |||
frameshift | 14 | 16 | 34 | |||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 27 | 32 | 168 | 167 | 2 |
Highest pathogenic variant AF is 0.000389984
GnomAD
Source:
dbNSFP
Source: