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Gene

BRCA1

BRCA1 DNA repair associated

Summary

Cytogenetic location
17q21.31
Coordinates
Chromosome 17: 43,044,295–43,125,364 (GRCh38)
Exons
23 exons across 81.1 kb
Protein
1,863 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
RNF53, BRCC1, PPP1R53, FANCS
MANE Select transcript
ENST00000357654.9NM_007294.4
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
      • 2 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
      • 2 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

  • Hereditary Breast and Ovarian Cancer (BRCA1/2)

    • BRCA1-related cancer predispositionAutosomal dominant

      BRCA1 variants that raise the lifetime risk of breast, ovarian and other cancers.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      Enhanced breast screening including MRI, consideration of risk-reducing surgery, and testing of relatives.

    • Hereditary Breast and Ovarian Cancer SyndromeAutosomal dominant

      A cancer predisposition syndrome, most often due to BRCA1 or BRCA2 variants, with high lifetime risks of breast and ovarian cancer.

      • 3 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      Genetic counseling, enhanced screening, risk-reducing surgery

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 BRCA1 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 BRCA1 sits. BRCA1 and 31 genes near it on chromosome 17, from 42,584,830 to 43,584,829.Chromosome 1717q21.31p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.342.6 Mb42.8 Mb43 Mb43.2 Mb43.4 MbRETREG3: 42,579,508–42,610,623, reverse strandRETREG3TUBG1: 42,609,411–42,615,253, forward strandTUBG1TUBG2: 42,659,223–42,667,007, forward strandTUBG2PLEKHH3: 42,667,914–42,677,064, reverse strandPLEKHH3CCR10: 42,678,889–42,683,917, reverse strandCCR10CNTNAP1: 42,682,368–42,699,993, forward strandCNTNAP1EZH1: 42,700,270–42,745,069, reverse strandEZH1RAMP2: 42,758,447–42,763,537, forward strandRAMP2VPS25: 42,773,439–42,779,600, forward strandWNK4: 42,780,593–42,797,066, forward strandCOA3: 42,793,154–42,798,719, reverse strandCOA3CNTD1: 42,798,800–42,811,587, forward strandCNTD1BECN1: 42,809,108–42,833,350, reverse strandBECN1PSME3: 42,824,385–42,843,760, forward strandPSME3AOC2: 42,844,574–42,850,707, forward strandAOC2AOC3: 42,851,130–42,858,130, forward strandAOC3G6PC1: 42,900,722–42,923,502, forward strandG6PC1AARSD1: 42,950,424–42,964,498, reverse strandPTGES3L-AARSD1: 42,950,526–42,980,528, reverse strandPTGES3L: 42,968,035–42,980,502, reverse strandPTGES3LRUNDC1: 42,980,552–42,995,142, forward strandRPL27: 42,998,265–43,002,973, forward strandRPL27VAT1: 42,999,182–43,025,123, reverse strandVAT1IFI35: 43,006,740–43,014,638, forward strandIFI35RND2: 43,025,210–43,047,509, forward strandRND2BRCA1: 43,044,295–43,125,364, reverse strandBRCA1NBR1: 43,170,317–43,211,690, forward strandNBR1TMEM106A: 43,211,835–43,220,041, forward strandTMEM106ACCDC200: 43,216,941–43,305,397, reverse strandCCDC200ARL4D: 43,398,150–43,408,660, forward strandARL4DDHX8: 43,483,865–43,610,338, forward strandDHX8ETV4: 43,527,841–43,579,620, reverse strandETV4Diagram of BRCA1: 23 exons on the reverse strand of chromosome 17Exon 23: 67 known disease-causing sitesExon 22: 25 known disease-causing sitesExon 21: 30 known disease-causing sitesExon 20: 28 known disease-causing sitesExon 19: 59 known disease-causing sitesExon 18: 23 known disease-causing sitesExon 17: 56 known disease-causing sitesExon 16: 45 known disease-causing sitesExon 15: 117 known disease-causing sitesExon 14: 78 known disease-causing sitesExon 13: 51 known disease-causing sitesExon 12: 66 known disease-causing sitesExon 11: 41 known disease-causing sitesExon 10: 1,571 known disease-causing sitesExon 9: 4 known disease-causing sitesExon 7: 43 known disease-causing sitesExon 6: 52 known disease-causing sitesExon 5: 30 known disease-causing sitesExon 4: 36 known disease-causing sitesExon 3: 28 known disease-causing sitesExon 2: 44 known disease-causing sitesExon 1: 1 known disease-causing siteExon 23: 43,044,295–43,045,802, 1,508 bases. 63 variants with a page in exon 23. List themExon 22: 43,047,643–43,047,703, 61 bases. 21 variants with a page in exon 22. List themExon 21: 43,049,121–43,049,194, 74 bases. 33 variants with a page in exon 21. List themExon 20: 43,051,063–43,051,117, 55 bases. 28 variants with a page in exon 20. List themExon 19: 43,057,052–43,057,135, 84 bases. 56 variants with a page in exon 19. List themExon 18: 43,063,333–43,063,373, 41 bases. 24 variants with a page in exon 18. List themExon 17: 43,063,874–43,063,951, 78 bases. 53 variants with a page in exon 17. List themExon 16: 43,067,608–43,067,695, 88 bases. 46 variants with a page in exon 16. List themExon 15: 43,070,928–43,071,238, 311 bases. 82 variants with a page in exon 15. List themExon 14: 43,074,331–43,074,521, 191 bases. 57 variants with a page in exon 14. List themExon 13: 43,076,488–43,076,614, 127 bases. 47 variants with a page in exon 13. List themExon 12: 43,082,404–43,082,575, 172 bases. 54 variants with a page in exon 12. List themExon 11: 43,090,944–43,091,032, 89 bases. 47 variants with a page in exon 11. List themExon 10: 43,091,435–43,094,860, 3,426 bases. 1,477 variants with a page in exon 10. List themExon 9: 43,095,846–43,095,922, 77 bases. 1 variant with a page in exon 9. List themExon 8: 43,097,244–43,097,289, 46 basesExon 7: 43,099,775–43,099,880, 106 bases. 38 variants with a page in exon 7. List themExon 6: 43,104,122–43,104,261, 140 bases. 48 variants with a page in exon 6. List themExon 5: 43,104,868–43,104,956, 89 bases. 20 variants with a page in exon 5. List themExon 4: 43,106,456–43,106,533, 78 bases. 47 variants with a page in exon 4. List themExon 3: 43,115,726–43,115,779, 54 bases. 31 variants with a page in exon 3. List themExon 2: 43,124,017–43,124,115, 99 bases. 51 variants with a page in exon 2. List themExon 1: 43,125,271–43,125,364, 94 bases23201510515′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 7.1 kb of the gene's 81.1 kb; 5,592 of those bases code for the protein.

How a genome test reads BRCA1

2,680

positions in BRCA1 where ClinVar classes a change as pathogenic or likely pathogenic

52 of them (1.9%) fall in regions short reads find hard.

  • Segmental duplications (52 sites)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 81.1 kb of BRCA1, introns included, not only the 7.1 kb of exons.

Variants with a page (2450)

The BRCA1 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
A92Ffs*4c.273_274delExon 543,104,894Pathogenic3 stars out of 4 reviewed by expert panel
A134Qfs*7c.399_400delExon 643,104,162Pathogenic3 stars out of 4 reviewed by expert panel
A302Cfs*2c.903_904insTExon 1043,094,627Pathogenic3 stars out of 4 reviewed by expert panel
A302Lfs*12c.904delExon 1043,094,626Pathogenic3 stars out of 4 reviewed by expert panel
A322Kfs*2c.964_968delExon 1043,094,562Pathogenic3 stars out of 4 reviewed by expert panel
A322Lfs*19c.964delExon 1043,094,566Pathogenic3 stars out of 4 reviewed by expert panel
A407Sfs*5c.1218_1219insAExon 1043,094,312Pathogenic3 stars out of 4 reviewed by expert panel
A433Pfs*8c.1297delExon 1043,094,233Pathogenic3 stars out of 4 reviewed by expert panel
A469Qfs*6c.1405delExon 1043,094,125Pathogenic3 stars out of 4 reviewed by expert panel
A521Xc.1561_1564delinsTAAAExon 1043,093,967Pathogenic3 stars out of 4 reviewed by expert panel

See all 2,450 BRCA1 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.). BRCA1 gene: BRCA1 DNA repair associated. Retrieved 16 October 2026, from https://dantelabs.com/genes/brca1

Vancouver

Dante Labs. BRCA1 gene: BRCA1 DNA repair associated [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/brca1

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