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Gene

BRCA2

BRCA2 DNA repair associated

Summary

Cytogenetic location
13q13.1
Coordinates
Chromosome 13: 32,315,508–32,400,268 (GRCh38)
Exons
27 exons across 84.8 kb
Protein
3,418 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
FAD, FAD1, BRCC2, XRCC11
Previous symbols
FANCD1, FACD, FANCD
MANE Select transcript
ENST00000380152.8NM_000059.4
Locus type
gene with protein product

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
      • 4 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
      • 4 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)

    • BRCA2-related cancer predispositionAutosomal dominant

      BRCA2 variants that raise the lifetime risk of breast, ovarian, prostate, pancreatic 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 BRCA2 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 13, with a bracket where BRCA2 sits. BRCA2 and 5 genes near it on chromosome 13, from 31,857,888 to 32,857,887.Chromosome 1313q13.1p13p12p11.2p11.1q11q12.11q12.12q12.13q12.2q12.3q13.1q13.2q13.3q14.11q14.12q14.13q14.2q14.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q3432 Mb32.2 Mb32.4 Mb32.6 Mb32.8 MbFRY: 31,846,713–32,299,125, forward strandFRYZAR1L: 32,303,699–32,315,363, reverse strandZAR1LBRCA2: 32,315,508–32,400,268, forward strandBRCA2N4BP2L1: 32,400,723–32,428,330, reverse strandN4BP2L1N4BP2L2: 32,432,417–32,539,156, reverse strandN4BP2L2PDS5B: 32,586,315–32,778,320, forward strandPDS5BDiagram of BRCA2: 27 exons on the forward strand of chromosome 13Exon 2: 26 known disease-causing sitesExon 3: 97 known disease-causing sitesExon 4: 33 known disease-causing sitesExon 5: 22 known disease-causing sitesExon 6: 14 known disease-causing sitesExon 7: 40 known disease-causing sitesExon 8: 22 known disease-causing sitesExon 9: 50 known disease-causing sitesExon 10: 422 known disease-causing sitesExon 11: 1,843 known disease-causing sitesExon 12: 16 known disease-causing sitesExon 13: 27 known disease-causing sitesExon 14: 135 known disease-causing sitesExon 15: 74 known disease-causing sitesExon 16: 75 known disease-causing sitesExon 17: 80 known disease-causing sitesExon 18: 142 known disease-causing sitesExon 19: 67 known disease-causing sitesExon 20: 56 known disease-causing sitesExon 21: 48 known disease-causing sitesExon 22: 74 known disease-causing sitesExon 23: 83 known disease-causing sitesExon 24: 45 known disease-causing sitesExon 25: 101 known disease-causing sitesExon 26: 32 known disease-causing sitesExon 27: 57 known disease-causing sitesExon 1: 32,315,508–32,315,667, 160 basesExon 2: 32,316,422–32,316,527, 106 bases. 20 variants with a page in exon 2. List themExon 3: 32,319,077–32,319,325, 249 bases. 76 variants with a page in exon 3. List themExon 4: 32,325,076–32,325,184, 109 bases. 18 variants with a page in exon 4. List themExon 5: 32,326,101–32,326,150, 50 bases. 23 variants with a page in exon 5. List themExon 6: 32,326,242–32,326,282, 41 bases. 10 variants with a page in exon 6. List themExon 7: 32,326,499–32,326,613, 115 bases. 32 variants with a page in exon 7. List themExon 8: 32,329,443–32,329,492, 50 bases. 11 variants with a page in exon 8. List themExon 9: 32,330,919–32,331,030, 112 bases. 41 variants with a page in exon 9. List themExon 10: 32,332,272–32,333,387, 1,116 bases. 309 variants with a page in exon 10. List themExon 11: 32,336,265–32,341,196, 4,932 bases. 1,442 variants with a page in exon 11. List themExon 12: 32,344,558–32,344,653, 96 bases. 3 variants with a page in exon 12. List themExon 13: 32,346,827–32,346,896, 70 bases. 26 variants with a page in exon 13. List themExon 14: 32,354,861–32,355,288, 428 bases. 103 variants with a page in exon 14. List themExon 15: 32,356,428–32,356,609, 182 bases. 49 variants with a page in exon 15. List themExon 16: 32,357,742–32,357,929, 188 bases. 59 variants with a page in exon 16. List themExon 17: 32,362,523–32,362,693, 171 bases. 67 variants with a page in exon 17. List themExon 18: 32,363,179–32,363,533, 355 bases. 123 variants with a page in exon 18. List themExon 19: 32,370,402–32,370,557, 156 bases. 55 variants with a page in exon 19. List themExon 20: 32,370,956–32,371,100, 145 bases. 45 variants with a page in exon 20. List themExon 21: 32,376,670–32,376,791, 122 bases. 25 variants with a page in exon 21. List themExon 22: 32,379,317–32,379,515, 199 bases. 58 variants with a page in exon 22. List themExon 23: 32,379,750–32,379,913, 164 bases. 83 variants with a page in exon 23. List themExon 24: 32,380,007–32,380,145, 139 bases. 35 variants with a page in exon 24. List themExon 25: 32,394,689–32,394,933, 245 bases. 82 variants with a page in exon 25. List themExon 26: 32,396,898–32,397,044, 147 bases. 15 variants with a page in exon 26. List themExon 27: 32,398,162–32,400,268, 2,107 bases. 28 variants with a page in exon 27. List them1510152025275′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 12 kb of the gene's 84.8 kb; 10,257 of those bases code for the protein.

How a genome test reads BRCA2

3,845

positions in BRCA2 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 84.8 kb of BRCA2, introns included, not only the 12 kb of exons.

Variants with a page (2963)

The BRCA2 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
A22Qfs*3c.63delExon 232,316,520Pathogenic3 stars out of 4 reviewed by expert panel
A39Lfs*41c.115delExon 332,319,123Pathogenic3 stars out of 4 reviewed by expert panel
A75Dfs*26c.223_224insAExon 332,319,232Pathogenic3 stars out of 4 reviewed by expert panel
A127Sfs*3c.378dupExon 432,325,135Pathogenic3 stars out of 4 reviewed by expert panel
A199Hfs*11c.595_598delExon 732,326,574Pathogenic3 stars out of 4 reviewed by expert panel
A248Vfs*3c.743delExon 932,330,979Pathogenic3 stars out of 4 reviewed by expert panel
A483Gfs*31c.1447dupExon 1032,332,924Pathogenic3 stars out of 4 reviewed by expert panel
A483Qfs*2c.1444delExon 1032,332,921Pathogenic3 stars out of 4 reviewed by expert panel
A495Ffs*17c.1482_1486delExon 1032,332,958Pathogenic3 stars out of 4 reviewed by expert panel
A518Qfs*7c.1552delExon 1032,333,029Pathogenic3 stars out of 4 reviewed by expert panel

See all 2,963 BRCA2 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.). BRCA2 gene: BRCA2 DNA repair associated. Retrieved 16 October 2026, from https://dantelabs.com/genes/brca2

Vancouver

Dante Labs. BRCA2 gene: BRCA2 DNA repair associated [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/brca2

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