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BNC2

Synonyms
BSN2, LUTO
External resources
Summary
This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis.

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
3
Likely pathogenic
0
VUS
1,786
Likely benign
2,535
Benign
1,776

Patient Phenotypes

Proportions of phenotypes among 3 patients carrying pathogenic or likely pathogenic variants on BNC2 gene are displayed below. The following symptoms were found in patients with a variant in BNC2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of blood and blood forming tissues
33.3%
Abnormality of the cardiovascular system
33.3%
Abnormality of the eye
33.3%
Abnormality of the immune system
33.3%
Abnormal cellular phenotype
0%
Abnormality of head or neck
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the nervous system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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