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TBC1D3C

Synonyms
PRC17, TBC1D3, TBC1D3A, TBC1D3D
External resources
Summary
This gene represents one of a cluster of related genes found on chromosome 17. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p, and Cdc16p) domain and may be involved in GTPase signaling and vesicle trafficking.

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
28
Likely pathogenic
248
VUS
9,500
Likely benign
1,773
Benign
0

Patient Phenotypes

Proportions of phenotypes among 273 patients carrying pathogenic or likely pathogenic variants on TBC1D3C gene are displayed below. The following symptoms were found in patients with a variant in TBC1D3C. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.9%
Abnormality of the musculoskeletal system
31.5%
Abnormality of the eye
26.7%
Abnormality of head or neck
24.9%
Growth abnormality
12.5%
Abnormality of the cardiovascular system
9.9%
Abnormality of the ear
9.5%
Abnormality of the integument
9.5%
Abnormality of blood and blood forming tissues
8.8%
Abnormality of limbs
8.8%
Abnormality of the genitourinary system
8.8%
Abnormality of metabolism homeostasis
5.5%
Abnormality of the endocrine system
4.4%
Abnormality of the digestive system
4%
Abnormality of the immune system
3.3%
Abnormality of the respiratory system
2.9%
Abnormality of prenatal development or birth
2.2%
Abnormality of the breast
0.7%
Neoplasm
0.7%
Abnormality of the voice
0.4%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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