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Gene

SMARCB1

SWI/SNF related BAF chromatin remodeling complex subunit B1

Summary

Cytogenetic location
22q11.23
Coordinates
Chromosome 22: 23,786,966–23,838,009 (GRCh38)
Exons
9 exons across 51 kb
Protein
385 amino acids
Inheritance
Autosomal dominant
Also known as
BAF47, Ini1, INI-1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144, SNF5
Previous symbols
SNF5L1
MANE Select transcript
ENST00000644036.2NM_003073.5
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 reports relevant to this gene

  • Neurofibromatosis

    • Autosomal dominant

      A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Genotype-phenotype correlation, MEK inhibitor therapy for inoperable plexiform neurofibromas, Tumor surveillance, cascade testing

  • Rhabdoid Tumour and SWI/SNF Tumour Predisposition

    • Familial rhabdoid tumourAutosomal dominant

      SMARCB1- or SMARCA4-related predisposition to atypical teratoid/rhabdoid tumours of the brain and rhabdoid tumours of the kidney and soft tissue in early childhood; SMARCA4 also causes small cell carcinoma of the ovary.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Brain and abdominal imaging in early childhood; relatives can be offered testing.

Broader groupings

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How SMARCB1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 22, with a bracket where SMARCB1 sits. SMARCB1 and 23 genes near it on chromosome 22, from 23,312,488 to 24,312,487.Chromosome 2222q11.23p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3323.4 Mb23.6 Mb23.8 Mb24 Mb24.2 MbBCR: 23,179,704–23,318,037, forward strandBCRIGLL1: 23,573,125–23,580,302, reverse strandIGLL1DRICH1: 23,608,452–23,632,322, reverse strandDRICH1RGL4: 23,688,136–23,699,176, forward strandRGL4ZNF70: 23,738,682–23,751,730, reverse strandVPREB3: 23,752,741–23,754,454, reverse strandC22orf15: 23,762,990–23,765,863, forward strandC22orf15CHCHD10: 23,765,834–23,767,982, reverse strandCHCHD10MMP11: 23,768,226–23,784,322, forward strandMMP11SMARCB1: 23,786,966–23,838,009, forward strandSMARCB1DERL3: 23,834,503–23,839,131, reverse strandDERL3SLC2A11: 23,856,703–23,886,312, forward strandSLC2A11: 23,862,188–23,895,223, forward strandDDT: 23,891,180–23,980,544, reverse strandDDTMIF: 23,894,372–23,895,227, forward strandMIFGSTT2B: 23,957,414–23,961,341, reverse strandGSTT2BDDTL: 23,966,881–23,972,558, forward strandDDTLGSTT2: 23,980,058–23,983,915, forward strandGSTT2GSTT4: 23,998,397–24,005,453, reverse strandCABIN1: 24,011,192–24,178,634, forward strandCABIN1SUSD2: 24,181,451–24,191,986, forward strandSUSD2GGT5: 24,210,982–24,245,763, reverse strandGGT5SPECC1L: 24,270,777–24,417,740, forward strandSPECC1LSPECC1L-ADORA2A: 24,270,898–24,442,356, forward strandSPECC1L-ADORA2ADiagram of SMARCB1: 9 exons on the forward strand of chromosome 22Exon 1: 8 known disease-causing sitesExon 2: 12 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 8: 10 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 1: 23,786,966–23,787,262, 297 basesExon 2: 23,791,756–23,791,894, 139 basesExon 3: 23,793,559–23,793,688, 130 basesExon 4: 23,800,944–23,801,081, 138 basesExon 5: 23,803,295–23,803,422, 128 basesExon 6: 23,816,770–23,816,936, 167 basesExon 7: 23,825,225–23,825,415, 191 basesExon 8: 23,833,572–23,833,703, 132 basesExon 9: 23,834,141–23,838,009, 3,869 bases1234567895′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 5.2 kb of the gene's 51 kb; 1,158 of those bases code for the protein.

How a genome test reads SMARCB1

68

positions in SMARCB1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 51 kb of SMARCB1, introns included, not only the 5.2 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.). SMARCB1 gene: SWI/SNF related BAF chromatin remodeling complex subunit B1. Retrieved 16 October 2026, from https://dantelabs.com/genes/smarcb1

Vancouver

Dante Labs. SMARCB1 gene: SWI/SNF related BAF chromatin remodeling complex subunit B1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/smarcb1

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