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BCAM

Synonyms
AU, CD239, LU, MSK19
External resources
Summary
This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
9
Likely pathogenic
0
VUS
4,516
Likely benign
4,244
Benign
0

Patient Phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on BCAM gene are displayed below. The following symptoms were found in patients with a variant in BCAM. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of head or neck
25%
Abnormality of the genitourinary system
25%
Abnormality of metabolism homeostasis
12.5%
Abnormality of the cardiovascular system
12.5%
Abnormality of the digestive system
12.5%
Abnormality of the eye
12.5%
Abnormality of the immune system
12.5%
Growth abnormality
12.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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