Home > Gene Browser > BCS1L
BCS1L
- Synonyms
- BCS, BCS1, BJS, FLNMS, GRACILE, Hs.6719, MC3DN1, PTD, h-BCS, h-BCS1
- External resources
- NCBI617
- OMIM603647
- EnsemblENSG00000074582
- HGNCHGNC:1020
- Summary
- This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 12
- Likely pathogenic
- 7
- VUS
- 4,429
- Likely benign
- 878
- Benign
- 80
Patient phenotypes
Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on BCS1L gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the nervous system
- 42.1%
- Abnormality of head or neck
- 31.6%
- Abnormality of the musculoskeletal system
- 31.6%
- Growth abnormality
- 26.3%
- Abnormality of the cardiovascular system
- 21.1%
- Abnormality of the eye
- 15.8%
- Abnormality of the genitourinary system
- 15.8%
- Abnormality of blood and blood-forming tissues
- 10.5%
- Abnormality of limbs
- 10.5%
- Abnormality of the ear
- 10.5%
- Abnormality of the immune system
- 10.5%
- Abnormality of the integument
- 10.5%
- Abnormality of the digestive system
- 5.3%
- Constitutional symptom
- 5.3%
- Abnormal cellular phenotype
- 0%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of prenatal development or birth
- 0%
- Abnormality of the breast
- 0%
- Abnormality of the endocrine system
- 0%
- Abnormality of the respiratory system
- 0%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of the voice
- 0%
- Neoplasm
- 0%
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