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BCS1L

Synonyms
BCS, BCS1, BJS, FLNMS, GRACILE, Hs.6719, MC3DN1, PTD, h-BCS, h-BCS1
External resources
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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