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NBN

Synonyms
AT-V1, AT-V2, ATV, NBS, NBS1, P95
External resources
Summary
Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation.

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
15
Likely pathogenic
0
VUS
1,933
Likely benign
1,287
Benign
496

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on NBN gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
40%
Abnormality of head or neck
33.3%
Abnormality of the nervous system
33.3%
Abnormality of the integument
26.7%
Abnormality of blood and blood-forming tissues
20%
Abnormality of limbs
20%
Abnormality of the cardiovascular system
20%
Abnormality of the eye
13.3%
Abnormality of the digestive system
6.7%
Abnormality of the ear
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of the immune system
6.7%
Abnormality of the voice
6.7%
Constitutional symptom
6.7%
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%
Growth abnormality
0%
Neoplasm
0%

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