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Gene

BRIP1

BRCA1 interacting DNA helicase 1

Summary

Cytogenetic location
17q23.2
Coordinates
Chromosome 17: 61,679,139–61,863,528 (GRCh38)
Exons
20 exons across 184.4 kb
Protein
1,249 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
OF, BACH1, FANCJ
MANE Select transcript
ENST00000259008.7NM_032043.3
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 reports relevant to this gene

  • DNA Repair Disease

    • Autosomal recessive

      A disease that has its basis in the disruption of DNA repair.

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

  • Fanconi Anemia

    • Autosomal recessive

      Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

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

      Hematopoietic stem cell transplantation using FA-specific reduced-intensity conditioning; androgens (oxymetholone) as bridge therapy; cancer surveillance for head/neck and gynecological malignancies; gene therapy in clinical trials

  • Breast and Ovarian Cancer Genes Beyond BRCA1/2

    • Familial ovarian cancerAutosomal dominant

      Inherited susceptibility to ovarian cancer, including that linked to BRIP1 variants.

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

      Risk-reducing removal of the ovaries and fallopian tubes may be considered.

    • Hereditary breast cancerAutosomal dominant

      Inherited susceptibility to breast cancer caused by variants in one of several genes.

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

      Earlier and more intensive breast screening, including MRI, may be recommended depending on the gene.

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.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How BRIP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 17, with a bracket where BRIP1 sits. BRIP1 and 6 genes near it on chromosome 17, from 61,271,334 to 62,271,333.Chromosome 1717q23.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.361.4 Mb61.6 Mb61.8 Mb62 Mb62.2 MbBCAS3: 60,677,453–61,392,838, forward strandBCAS3TBX2: 61,399,630–61,409,466, forward strandTBX2TBX4: 61,451,906–61,485,110, forward strandTBX4NACA2: 61,590,421–61,591,219, reverse strandNACA2BRIP1: 61,679,139–61,863,528, reverse strandBRIP1INTS2: 61,865,367–61,928,016, reverse strandINTS2MED13: 61,942,546–62,065,365, reverse strandMED13Diagram of BRIP1: 20 exons on the reverse strand of chromosome 17Exon 20: 15 known disease-causing sitesExon 19: 48 known disease-causing sitesExon 18: 17 known disease-causing sitesExon 17: 26 known disease-causing sitesExon 16: 15 known disease-causing sitesExon 15: 36 known disease-causing sitesExon 14: 31 known disease-causing sitesExon 13: 17 known disease-causing sitesExon 12: 34 known disease-causing sitesExon 11: 31 known disease-causing sitesExon 10: 24 known disease-causing sitesExon 9: 32 known disease-causing sitesExon 8: 41 known disease-causing sitesExon 7: 45 known disease-causing sitesExon 6: 19 known disease-causing sitesExon 5: 31 known disease-causing sitesExon 4: 25 known disease-causing sitesExon 3: 27 known disease-causing sitesExon 2: 19 known disease-causing sitesExon 20: 61,679,139–61,684,140, 5,002 bases. 2 variants with a page in exon 20. List themExon 19: 61,685,836–61,686,165, 330 bases. 18 variants with a page in exon 19. List themExon 18: 61,693,430–61,693,512, 83 bases. 4 variants with a page in exon 18. List themExon 17: 61,715,951–61,716,063, 113 bases. 15 variants with a page in exon 17. List themExon 16: 61,743,013–61,743,134, 122 bases. 5 variants with a page in exon 16. List themExon 15: 61,744,432–61,744,591, 160 bases. 27 variants with a page in exon 15. List themExon 14: 61,776,401–61,776,562, 162 bases. 15 variants with a page in exon 14. List themExon 13: 61,780,261–61,780,401, 141 bases. 9 variants with a page in exon 13. List themExon 12: 61,780,840–61,781,005, 166 bases. 14 variants with a page in exon 12. List themExon 11: 61,784,270–61,784,424, 155 bases. 15 variants with a page in exon 11. List themExon 10: 61,793,597–61,793,729, 133 bases. 11 variants with a page in exon 10. List themExon 9: 61,799,100–61,799,299, 200 bases. 15 variants with a page in exon 9. List themExon 8: 61,801,253–61,801,474, 222 bases. 23 variants with a page in exon 8. List themExon 7: 61,808,467–61,808,757, 291 bases. 23 variants with a page in exon 7. List themExon 6: 61,847,101–61,847,220, 120 bases. 7 variants with a page in exon 6. List themExon 5: 61,849,129–61,849,256, 128 bases. 18 variants with a page in exon 5. List themExon 4: 61,857,058–61,857,231, 174 bases. 7 variants with a page in exon 4. List themExon 3: 61,859,796–61,859,907, 112 bases. 14 variants with a page in exon 3. List themExon 2: 61,861,447–61,861,569, 123 bases. 14 variants with a page in exon 2. List themExon 1: 61,863,284–61,863,528, 245 bases201510515′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 8.2 kb of the gene's 184.4 kb; 3,750 of those bases code for the protein.

How a genome test reads BRIP1

605

positions in BRIP1 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 184.4 kb of BRIP1, introns included, not only the 8.2 kb of exons.

Variants with a page (317)

The BRIP1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A27Cfs*42c.78dupExon 261,861,461Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
A349Pc.1045G>CExon 861,801,348Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
A402Sfs*19c.1203_1204delExon 961,799,235Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
A402Vfs*21c.1201_1204dupExon 961,799,235Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
A551Kfs*41c.1645_1649dupExon 1261,780,984Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
A759Sfs*6c.2273dupExon 1661,743,118Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.66C>AExon 261,861,474Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.73_93+14delIntron 261,861,432Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.93+1G>AIntron 261,861,446Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.93+1G>CIntron 261,861,446Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 317 BRIP1 variants →

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.). BRIP1 gene: BRCA1 interacting DNA helicase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/brip1

Vancouver

Dante Labs. BRIP1 gene: BRCA1 interacting DNA helicase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/brip1

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