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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

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
256
Likely pathogenic
0
VUS
34,108
Likely benign
44,246
Benign
1,311

Patient phenotypes

Proportions of phenotypes among 252 patients carrying pathogenic or likely pathogenic variants on SVIL gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.3%
Abnormality of the eye
27.8%
Abnormality of the cardiovascular system
24.6%
Abnormality of the musculoskeletal system
23%
Abnormality of head or neck
18.3%
Growth abnormality
13.5%
Abnormality of the integument
12.3%
Abnormality of the ear
11.9%
Abnormality of limbs
9.9%
Abnormality of the digestive system
9.5%
Abnormality of the genitourinary system
7.9%
Abnormality of prenatal development or birth
4%
Abnormality of the immune system
4%
Abnormality of the endocrine system
3.6%
Abnormality of blood and blood-forming tissues
2.8%
Abnormality of the respiratory system
2.8%
Constitutional symptom
2%
Neoplasm
2%
Abnormal cellular phenotype
0.8%
Abnormality of the breast
0.4%
Abnormality of the voice
0.4%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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