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Gene

SVIL

supervillin

Summary

Cytogenetic location
10p11.23
Coordinates
Chromosome 10: 29,457,338–29,634,971 (GRCh38)
Exons
38 exons across 177.6 kb
Protein
2,214 amino acids
MANE Select transcript
ENST00000355867.9NM_021738.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Myofibrillar Myopathies

    • Myofibrillar myopathy

      A group of muscle disorders in which the contractile structure of muscle fibers breaks down, caused by genes such as DES, CRYAB, MYOT, LDB3, FLNC and BAG3.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Because the heart is often involved, regular heart checks (such as ECG and echocardiography) are recommended even without symptoms.

How SVIL is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where SVIL sits. SVIL and 2 genes near it on chromosome 10, from 29,046,155 to 30,046,154.Chromosome 1010p11.23p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.329.2 Mb29.4 Mb29.6 Mb29.8 Mb30 MbLYZL1: 29,289,061–29,318,328, forward strandLYZL1SVIL: 29,457,338–29,634,971, reverse strandSVILJCAD: 30,012,803–30,115,494, reverse strandJCADDiagram of SVIL: 38 exons on the reverse strand of chromosome 10Exon 11: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 38: 29,457,338–29,458,333, 996 basesExon 37: 29,458,434–29,458,589, 156 basesExon 36: 29,462,277–29,462,401, 125 basesExon 35: 29,463,492–29,463,635, 144 basesExon 34: 29,465,595–29,465,750, 156 basesExon 33: 29,467,742–29,467,875, 134 basesExon 32: 29,470,276–29,470,483, 208 basesExon 31: 29,471,138–29,471,243, 106 basesExon 30: 29,473,838–29,473,989, 152 basesExon 29: 29,480,537–29,480,813, 277 basesExon 28: 29,481,584–29,481,728, 145 basesExon 27: 29,484,656–29,484,831, 176 basesExon 26: 29,486,085–29,486,230, 146 basesExon 25: 29,486,410–29,486,557, 148 basesExon 24: 29,487,163–29,487,299, 137 basesExon 23: 29,488,601–29,488,756, 156 basesExon 22: 29,490,847–29,491,019, 173 basesExon 21: 29,493,214–29,493,391, 178 basesExon 20: 29,494,914–29,495,000, 87 basesExon 19: 29,495,092–29,495,181, 90 basesExon 18: 29,499,116–29,499,263, 148 basesExon 17: 29,512,735–29,512,861, 127 basesExon 16: 29,522,410–29,522,635, 226 basesExon 15: 29,523,451–29,524,027, 577 basesExon 14: 29,524,472–29,524,715, 244 basesExon 13: 29,526,961–29,527,056, 96 basesExon 12: 29,529,705–29,529,844, 140 basesExon 11: 29,530,607–29,530,668, 62 basesExon 10: 29,531,254–29,531,288, 35 basesExon 9: 29,532,002–29,532,172, 171 basesExon 8: 29,532,529–29,533,458, 930 basesExon 7: 29,535,989–29,536,069, 81 basesExon 6: 29,550,597–29,551,263, 667 basesExon 5: 29,554,783–29,554,934, 152 basesExon 4: 29,555,051–29,555,108, 58 basesExon 3: 29,563,201–29,563,292, 92 basesExon 2: 29,569,255–29,569,312, 58 basesExon 1: 29,634,420–29,634,971, 552 bases38353025201510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 8.3 kb of the gene's 177.6 kb; 6,645 of those bases code for the protein.

How a genome test reads SVIL

5

positions in SVIL where ClinVar classes a change as pathogenic or likely pathogenic

1 of them (20%) falls in a region short reads find hard.

  • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (1 site)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 177.6 kb of SVIL, introns included, not only the 8.3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SVIL gene: supervillin. Retrieved 16 October 2026, from https://dantelabs.com/genes/svil

Vancouver

Dante Labs. SVIL gene: supervillin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/svil

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