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TACC2

Synonyms
AZU-1, ECTACC
External resources
Summary
Transforming acidic coiled-coil proteins are a conserved family of centrosome- and microtubule-interacting proteins that are implicated in cancer. This gene encodes a protein that concentrates at centrosomes throughout the cell cycle. This gene lies within a chromosomal region associated with tumorigenesis. Expression of this gene is induced by erythropoietin and is thought to affect the progression of breast tumors. Several transcript variants encoding different isoforms have been found for this gene.

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
0
Likely pathogenic
1
VUS
18,017
Likely benign
9,220
Benign
0

Patient phenotypes

Proportions of phenotypes among 1 patients carrying pathogenic or likely pathogenic variants on TACC2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
100%
Abnormality of the cardiovascular system
100%
Abnormality of the digestive system
100%
Abnormality of the endocrine system
100%
Abnormality of the immune system
100%
Abnormality of the integument
100%
Abnormality of the musculoskeletal system
100%
Abnormality of the nervous system
100%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
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 ear
0%
Abnormality of the eye
0%
Abnormality of the genitourinary 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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