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TNNT2

Synonyms
CMD1D, CMH2, CMPD2, LVNC6, RCM3, TnTC, cTnT
External resources
Summary
The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined.

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
34
Likely pathogenic
12
VUS
1,192
Likely benign
790
Benign
12,053

Patient phenotypes

Proportions of phenotypes among 40 patients carrying pathogenic or likely pathogenic variants on TNNT2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
40%
Abnormality of the nervous system
35%
Abnormality of head or neck
27.5%
Abnormality of the musculoskeletal system
27.5%
Abnormality of the eye
17.5%
Abnormality of the integument
15%
Abnormality of limbs
12.5%
Abnormality of the ear
12.5%
Growth abnormality
10%
Abnormality of the digestive system
7.5%
Abnormality of the immune system
7.5%
Abnormality of the respiratory system
7.5%
Abnormal cellular phenotype
5%
Abnormality of blood and blood-forming tissues
5%
Abnormality of the genitourinary system
5%
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 thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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