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SVIL

Synonyms
MFM10
External resources
Summary
This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described.

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
122
Likely pathogenic
0
VUS
21,218
Likely benign
9,223
Benign
708

Patient phenotypes

Proportions of phenotypes among 122 patients carring pathogenic or likely pathogenic variants on SVIL gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
38.5%
Abnormality of the nervous system
36.9%
Abnormality of the musculoskeletal system
24.6%
Abnormality of the cardiovascular system
22.1%
Abnormality of head or neck
21.3%
Growth abnormality
17.2%
Abnormality of the integument
13.1%
Abnormality of limbs
11.5%
Abnormality of the digestive system
11.5%
Abnormality of the ear
11.5%
Abnormality of the genitourinary system
8.2%
Abnormality of prenatal development or birth
5.7%
Abnormality of the immune system
4.9%
Abnormality of the endocrine system
4.1%
Abnormality of the respiratory system
4.1%
Abnormality of blood and blood-forming tissues
3.3%
Constitutional symptom
3.3%
Neoplasm
2.5%
Abnormal cellular phenotype
0.8%
Abnormality of the breast
0.8%
Abnormality of the voice
0.8%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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