BRCA2 (P51587) variants and mutations
BRCA2 (also known as P51587) is a human protein-coding gene encoding a breast cancer type 2 susceptibility protein. It loads RAD51 onto damaged DNA to enable homologous recombination and also protects stressed replication forks from degradation. Germline loss-of-function variants strongly predispose to breast, ovarian, prostate, pancreatic, and other cancers. This analysis covers 16,922 BRCA2 variants and mutations. Of these, 59% have computational variant effect predictions. Disease context includes breast cancer, Fanconi anemia complementation group D1, and cancer. Example BRCA2 variants include M1?, M1I, and M1K.
Variant analysis overview
- Gene: BRCA2
- Protein: P51587
- UniProt accession: P51587
- Organism: Homo sapiens
- Variants analyzed: 16922
- Variant scope: all variants
- Completed: 2026-08-10
Variant and mutation evidence
- Variant composition: 16,821 unspecified-consequence records; 66 synonymous variants; 9 frameshift variants; 1 in-frame insertions; 13 missense variants; 5 splice-region variants; 4 in-frame deletions; 1 substitution
- Prediction scores: 9,986 variants have prediction scores (59% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: breast cancer, Fanconi anemia complementation group D1, cancer, breast neoplasm, breast carcinoma, breast-ovarian cancer, familial, susceptibility to, 2, Hereditary breast and ovarian cancer syndrome, ovarian cancer, hereditary breast carcinoma, Hereditary breast cancer, medulloblastoma, prostate cancer.
Protein structure and variant hotspots
- Protein features: 10 post-translational modification sites.
- PTM context: 44 variants overlap post-translational modification sites.
- Experimental data: 291 protein positions have experimental scores. Source: Scores from arrayed screen of BRCA2 homology directed repair function in VC-8 cells.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Diseases linked to BRCA2
- Fanconi anemia complementation genes and variants
- Ovarian cancer genes and variants
- Hereditary breast ovarian cancer syndrome genes and variants
- Hereditary breast cancer genes and variants
- Fanconi anemia genes and variants
- Glioma susceptibility genes and variants
- Ovarian neoplasm genes and variants
- Wilms tumor genes and variants
- Prostate cancer genes and variants
- Medulloblastoma genes and variants
- Familial pancreatic carcinoma genes and variants
- Prostate cancer, hereditary genes and variants
Notable BRCA2 variants
Examples include M1?, M1I, M1K, M1R, M1T, M1V, P2A, P2H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV61525, cosmic curated COSV61526
- M1I (p.Met1Ile), rs80358650, ClinGen CA019369, ClinVar RCV000031452, ClinVar RCV000496217, MetaLR 0.01, MetaSVM -1.08, Pathogenic
- M1K (p.Met1Lys), rs80358547, ClinGen CA387752876, ClinVar RCV000496424, ClinVar RCV001268575, MetaLR 0.01, MetaSVM -1.06, Pathogenic
- M1R (p.Met1Arg), rs80358547, ClinGen CA017013, ClinVar RCV000044102, ClinVar RCV000113010, MetaLR 0.01, MetaSVM -1.06, Pathogenic
- M1T (p.Met1Thr), rs80358547, ClinGen CA017005, ClinVar RCV000165930, ClinVar RCV000662990, MetaLR 0.01, MetaSVM -1.06, Pathogenic
- M1V (p.Met1Val), rs863224464, ClinGen CA335967, ClinVar RCV000195819, MetaLR 0.01, MetaSVM -1.04, Pathogenic
- P2A (p.Pro2Ala), rs1266625701, ClinGen CA387752883, ClinVar RCV003531342, gnomAD rs1266625701, AlphaMissense 0.10, MetaLR 0.00, Uncertain significance
- P2H (p.Pro2His), TOPMed rs80358836, REVEL 0.05, AlphaMissense 0.15, Uncertain significance
- P2L (p.Pro2Leu), rs80358836, ClinGen CA023494, ClinVar RCV000113015, ClinVar RCV001024782, AlphaMissense 0.15, MetaLR 0.01, Uncertain significance
- P2R (p.Pro2Arg), TOPMed rs80358836, Uncertain significance
- P2S (p.Pro2Ser), rs1266625701, ClinGen CA387752885, ClinVar RCV003032823, gnomAD rs1266625701, REVEL 0.04, AlphaMissense 0.10, Uncertain significance
- P2T (p.Pro2Thr), gnomAD rs1266625701, SIFT 0.04, Uncertain significance
- P2P (p.Pro2Pro), rs746566500, gnomAD 13-32316466-T-C, CADD 6.90
- I3N (p.Ile3Asn), Ensembl rs1555280096, Likely benign
- I3T (p.Ile3Thr), rs1555280096, ClinGen CA387752900, ClinVar RCV000502615, ClinVar RCV001342409, AlphaMissense 0.13, MetaLR 0.00, Likely benign
- I3V (p.Ile3Val), rs770479195, ClinGen CA6940305, ClinVar RCV000222062, ClinVar RCV000536609, REVEL 0.04, CADD 0.12, Uncertain significance
- G4* (p.Gly4Ter), rs397507571, ClinGen CA010813, cosmic curated COSV10465, ClinVar RCV000239090, AlphaMissense 0.21, MetaLR 0.00, Pathogenic
- G4A (p.Gly4Ala), rs587782137, ClinGen CA011150, ClinVar RCV000167014, ClinVar RCV000637700, REVEL 0.13, CADD 23.70, Likely benign
- G4E (p.Gly4Glu), rs587782137, ClinGen CA011142, ClinVar RCV000130687, ClinVar RCV000537170, REVEL 0.09, CADD 22.30, Likely benign
- G4R (p.Gly4Arg), Ensembl rs397507571, REVEL 0.08, AlphaMissense 0.21, Pathogenic
- G4V (p.Gly4Val), rs587782137, ClinGen CA387752915, ClinVar RCV001010276, ExAC rs587782137, REVEL 0.07, CADD 26.80, Likely benign
- S5C (p.Ser5Cys), rs2138698078, ClinGen CA387752923, ClinVar RCV002389892, Ensembl rs2138698078, AlphaMissense 0.09, MetaLR 0.00, Likely benign
- S5F (p.Ser5Phe), Ensembl rs2138698078, REVEL 0.09, AlphaMissense 0.09, Likely benign
- S5P (p.Ser5Pro), rs1478936460, ClinGen CA387752920, ClinVar RCV001181353, ClinVar RCV001305448, REVEL 0.08, CADD 22.60, Uncertain significance
- S5Y (p.Ser5Tyr), Ensembl rs2138698078, Likely benign
- S5S (p.Ser5Ser), rs2138698096, gnomAD 13-32316475-C-T, CADD 14.30
- K6* (p.Lys6Ter), Ensembl rs794727232, Uncertain significance
- K6N (p.Lys6Asn), Ensembl rs2138698127
- K6Q (p.Lys6Gln), rs794727232, ClinGen CA012924, ClinVar RCV000175514, ClinVar RCV003644929, AlphaMissense 0.14, MetaLR 0.00, Uncertain significance
- K6R (p.Lys6Arg), rs80359298, gnomAD 13-32316475-CAA-C, CADD 27.70
- E7D (p.Glu7Asp), rs1593880678, ClinGen CA387752960, ClinVar RCV001898283, Ensembl rs1593880678, AlphaMissense 0.17, MetaLR 0.00, Likely benign
- E7K (p.Glu7Lys), rs2072261094, ClinGen CA387752946, cosmic curated COSV61526, ClinVar RCV002043031, AlphaMissense 0.11, MetaLR 0.00, Uncertain significance
- E7Q (p.Glu7Gln), TOPMed rs2072261094, SIFT 0.03, Uncertain significance
- R8G (p.Arg8Gly), rs2138698171, ClinGen CA387752961, ClinVar RCV001958398, ClinVar RCV004603100, REVEL 0.15, CADD 29.40, Uncertain significance
- R8K (p.Arg8Lys), rs2072261141, ClinGen CA387752963, ClinVar RCV001218282, ClinVar RCV005306324, REVEL 0.10, AlphaMissense 0.26, Likely benign
- R8M (p.Arg8Met), rs2072261141, ClinGen CA387752966, ClinVar RCV003644641, AlphaMissense 0.26, MetaLR 0.02, Uncertain significance
- R8S (p.Arg8Ser), rs1060504600, ClinGen CA387752969, ClinVar RCV001015728, Ensembl rs1060504600, AlphaMissense 0.55, MetaLR 0.01, Likely benign
- R8T (p.Arg8Thr), Ensembl rs2072261141, Uncertain significance
- R8A (p.Arg8Ala), rs397507623, gnomAD 13-32316477-AAG-A, CADD 25.10
- R8R (p.Arg8Arg), rs1060504600, gnomAD 13-32316484-G-A, AlphaMissense 0.55, MetaLR 0.01
- P9A (p.Pro9Ala), Ensembl rs1593880685, Uncertain significance
- P9L (p.Pro9Leu), rs80358527, ClinGen CA016099, ClinVar RCV000113031, gnomAD rs80358527, AlphaMissense 0.14, MetaLR 0.01, Uncertain significance
- P9Q (p.Pro9Gln), gnomAD rs80358527, REVEL 0.10, AlphaMissense 0.14, Uncertain significance
- P9R (p.Pro9Arg), rs80358527, ClinGen CA16613796, ClinVar RCV000464920, gnomAD rs80358527, AlphaMissense 0.14, MetaLR 0.01, Uncertain significance
- P9S (p.Pro9Ser), rs1593880685, ClinGen CA387752972, ClinVar RCV001016067, ClinVar RCV002550813, REVEL 0.11, CADD 25.30, Uncertain significance
- P9T (p.Pro9Thr), Ensembl rs1593880685, REVEL 0.11, CADD 24.80, Uncertain significance
- P9P (p.Pro9Pro), rs786201444, gnomAD 13-32316487-A-G, CADD 13.10
- T10A (p.Thr10Ala), rs786203080, ClinGen CA016728, ClinVar RCV000166222, ClinVar RCV000470603, REVEL 0.12, AlphaMissense 0.20, Likely benign
- T10I (p.Thr10Ile), rs1057519494, ClinGen CA387752986, ClinVar RCV000701153, ClinVar RCV003584724, AlphaMissense 0.47, MetaLR 0.01, Uncertain significance
- T10K (p.Thr10Lys), rs1057519494, ClinGen CA16044272, ClinVar RCV000416544, ClinVar RCV000567907, REVEL 0.10, AlphaMissense 0.47, Uncertain significance
- T10P (p.Thr10Pro), rs786203080, ClinGen CA387752984, ClinVar RCV000794446, Ensembl rs786203080, AlphaMissense 0.20, MetaLR 0.01, Likely benign
- T10R (p.Thr10Arg), Ensembl rs1057519494, Uncertain significance
- T10S (p.Thr10Ser), Ensembl rs786203080, SIFT 0.00, Likely benign
- F11C (p.Phe11Cys), rs2138698291, ClinGen CA387752994, ClinVar RCV001357257, ClinVar RCV004034480, REVEL 0.13, CADD 31.00, Uncertain significance
- F11L (p.Phe11Leu), rs1566214589, ClinGen CA387752990, ClinVar RCV002258464, ClinVar RCV003645243, AlphaMissense 0.70, MetaLR 0.01, Uncertain significance
- F11S (p.Phe11Ser), Ensembl rs2138698291, Uncertain significance
- F11V (p.Phe11Val), rs1566214589, ClinGen CA387752991, ClinVar RCV000772547, ClinVar RCV001856019, AlphaMissense 0.70, MetaLR 0.01, Uncertain significance
- F11Y (p.Phe11Tyr), Ensembl rs2138698291, SIFT 0.01, Uncertain significance
- F12L (p.Phe12Leu), Ensembl rs2138698325, SIFT 0.01
- F12S (p.Phe12Ser), rs587782872, ClinGen CA018403, ClinVar RCV000132497, ClinVar RCV000701357, REVEL 0.14, CADD 26.00, Uncertain significance
- F12V (p.Phe12Val), rs80358597, ClinGen CA018197, ClinVar RCV000077304, ClinVar RCV000129690, REVEL 0.11, CADD 27.50, Likely benign
- E13* (p.Glu13Ter), rs80359393, ClinGen CA018441, ClinVar RCV000082917, ClinVar RCV000486380, CADD 30.00, Pathogenic
- E13D (p.Glu13Asp), rs1555280111, ClinGen CA387753023, ClinVar RCV000564529, Ensembl rs1555280111, REVEL 0.05, CADD 20.40, Uncertain significance
- E13K (p.Glu13Lys), rs80358622, ClinGen CA16619632, ClinVar RCV000478846, ClinVar RCV000543750, REVEL 0.10, CADD 32.00, Pathogenic
- E13Q (p.Glu13Gln), TOPMed rs80358622, SIFT 0.00, Pathogenic
- E13V (p.Glu13Val), Ensembl rs2138698350, REVEL 0.13, CADD 32.00, Uncertain significance
- I14F (p.Ile14Phe), cosmic curated COSV10817
- I14M (p.Ile14Met), rs2138698375, ClinGen CA387753032, ClinVar RCV001804317, Ensembl rs2138698375, REVEL 0.11, CADD 25.30, Uncertain significance
- I14N (p.Ile14Asn), rs1241704385, ClinGen CA387753028, NCI-TCGA Cosmic COSV1005, cosmic curated COSV10056, REVEL 0.13, AlphaMissense 0.29, Uncertain significance
- I14T (p.Ile14Thr), rs1241704385, ClinGen CA387753029, ClinVar RCV003484435, AlphaMissense 0.29, MetaLR 0.01, Uncertain significance
- I14V (p.Ile14Val), rs886038198, ClinGen CA10586675, ClinVar RCV000241177, ClinVar RCV002321921, REVEL 0.11, CADD 23.60, Uncertain significance
- p.Ile14 Phe15insLeu, rs80359445, gnomAD 13-32316502-T-TTT, CADD 21.20
- F15C (p.Phe15Cys), rs2072261809, ClinGen CA387753041, ClinVar RCV001067522, Ensembl rs2072261809, REVEL 0.23, CADD 31.00, Uncertain significance
- F15L (p.Phe15Leu), rs1064793592, NCI-TCGA Cosmic COSV1005, Ensembl rs2138698399, ClinGen CA16619633, REVEL 0.19, CADD 30.00, Uncertain significance
- K16* (p.Lys16Ter), Ensembl rs2138698406, Pathogenic
- K16E (p.Lys16Glu), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10056, Variant assessed as somatic; moderate impact.
- K16M (p.Lys16Met), Ensembl rs876660440, Uncertain significance
- K16N (p.Lys16Asn), Ensembl rs2138698428, SIFT 0.02, Likely benign
- K16R (p.Lys16Arg), rs876660440, ClinGen CA10579443, cosmic curated COSV61525, ClinVar RCV000221506, REVEL 0.06, CADD 22.80, Uncertain significance
- T17I (p.Thr17Ile), rs2548509803, ClinGen CA2739277497, ClinVar RCV003740562, Uncertain significance
- T17R (p.Thr17Arg), Ensembl rs386833396, Uncertain significance
- T17S (p.Thr17Ser), Ensembl rs2138698447, SIFT 0.06
- T17T (p.Thr17Thr), rs1593880773, gnomAD 13-32316511-A-T, CADD 9.66
- R18C (p.Arg18Cys), rs786201560, ClinGen CA021988, cosmic curated COSV10056, ClinVar RCV000163880, REVEL 0.11, CADD 23.30, Likely benign
- R18G (p.Arg18Gly), TOPMed rs786201560, Likely benign
- R18H (p.Arg18His), rs80358762, ClinGen CA022238, cosmic curated COSV61525, ClinVar RCV000044652, REVEL 0.07, AlphaMissense 0.78, Benign
- R18L (p.Arg18Leu), rs80358762, ClinGen CA387753070, cosmic curated COSV61526, ClinVar RCV004524534, AlphaMissense 0.78, MetaLR 0.01, Benign
- R18P (p.Arg18Pro), 1000Genomes rs80358762, ExAC rs80358762, TOPMed rs80358762, gnomAD rs80358762, Benign
- R18S (p.Arg18Ser), TOPMed rs786201560, SIFT 0.00, Likely benign
- R18R (p.Arg18Arg), rs879915769, gnomAD 13-32316514-C-G, CADD 8.32
- C19* (p.Cys19Ter), Ensembl rs878853592, Likely benign
- C19F (p.Cys19Phe), rs1370260227, ClinGen CA387753083, ClinVar RCV000582172, ClinVar RCV006260364, REVEL 0.25, AlphaMissense 0.57, Uncertain significance
- C19R (p.Cys19Arg), rs2072262127, ClinGen CA387753076, ClinVar RCV001187830, ClinVar RCV002559136, REVEL 0.22, CADD 31.00, Uncertain significance
- C19S (p.Cys19Ser), rs1370260227, ClinGen CA387753082, ClinVar RCV002347561, TOPMed rs1370260227, REVEL 0.21, CADD 28.80, Uncertain significance
- C19W (p.Cys19Trp), Ensembl rs878853592, Likely benign
- C19Y (p.Cys19Tyr), rs1370260227, ClinGen CA387753081, ClinVar RCV000776986, ClinVar RCV001207204, AlphaMissense 0.57, MetaLR 0.02, Uncertain significance
- C19C (p.Cys19Cys), rs878853592, gnomAD 13-32316517-C-T, CADD 15.80
- N20D (p.Asn20Asp), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10056, Variant assessed as somatic; moderate impact.
- N20I (p.Asn20Ile), ExAC rs398122544, TOPMed rs398122544, gnomAD rs398122544, Uncertain significance
- N20K (p.Asn20Lys), Ensembl rs1555280114, Likely benign
- N20S (p.Asn20Ser), rs1593880798, ClinGen CA915946921, ClinVar RCV001024551, Ensembl rs1593880798, REVEL 0.06, CADD 2.61, Pathogenic
- N20Y (p.Asn20Tyr), Ensembl rs2138698547, SIFT 0.00
- N20N (p.Asn20Asn), rs1555280114, gnomAD 13-32316520-C-T, CADD 12.00
- K21I (p.Lys21Ile), ExAC rs397507367, TOPMed rs397507367, gnomAD rs397507367, Likely benign
- K21N (p.Lys21Asn), Ensembl rs1280004443, SIFT 0.04, Likely benign
- K21R (p.Lys21Arg), rs397507367, ClinGen CA023837, cosmic curated COSV10591, ClinVar RCV000031614, REVEL 0.05, CADD 20.00, Likely benign
- K21E (p.Lys21Glu), gnomAD 13-32316521-A-G, REVEL 0.04, CADD 1.57
- A22E (p.Ala22Glu), Ensembl rs2138698612
- A22G (p.Ala22Gly), Ensembl rs2138698612
- A22P (p.Ala22Pro), Ensembl rs2138698595, Uncertain significance
- A22T (p.Ala22Thr), rs2138698595, ClinGen CA387753111, cosmic curated COSV61526, ClinVar RCV002364132, AlphaMissense 0.43, MetaLR 0.01, Uncertain significance
- A22A (p.Ala22Ala), rs1555280115, gnomAD 13-32316526-A-T, CADD 24.60
- D23E (p.Asp23Glu), Ensembl rs1555280330, Likely benign
- D23G (p.Asp23Gly), rs774521832, ClinGen CA6940320, cosmic curated COSV10654, ClinVar RCV000772644, REVEL 0.20, AlphaMissense 0.54, Uncertain significance
- D23H (p.Asp23His), rs397507881, ClinGen CA387753121, ClinVar RCV001358699, Ensembl rs397507881, AlphaMissense 0.33, MetaLR 0.36, Pathogenic
- D23N (p.Asp23Asn), rs397507881, ClinGen CA10576059, cosmic curated COSV61525, ClinVar RCV000211034, AlphaMissense 0.33, MetaLR 0.36, Pathogenic
- D23V (p.Asp23Val), rs774521832, ClinGen CA10579444, ClinVar RCV000217960, ExAC rs774521832, AlphaMissense 0.54, MetaLR 0.02, Uncertain significance
- D23Y (p.Asp23Tyr), rs397507881, ClinGen CA024413, ClinVar RCV000258389, ClinVar RCV001543453, AlphaMissense 0.33, MetaLR 0.36, Pathogenic
- D23I (p.Asp23Ile), gnomAD 13-32316525-CA-C, CADD 33.00
- D23D (p.Asp23Asp), rs1555280330, gnomAD 13-32319078-T-C, CADD 13.60
- L24* (p.Leu24Ter), rs397507902, ClinGen CA10589004, ClinVar RCV000257036, ClinVar RCV001056537, AlphaMissense 0.64, MetaLR 0.04, Pathogenic
- L24F (p.Leu24Phe), rs397507909, ClinGen CA025017, ClinVar RCV000577171, ClinVar RCV001362590, REVEL 0.17, MetaLR 0.03, Uncertain significance
- L24I (p.Leu24Ile), Ensembl rs2072283918, Uncertain significance
- L24S (p.Leu24Ser), Ensembl rs397507902, REVEL 0.15, AlphaMissense 0.64, Pathogenic
- L24V (p.Leu24Val), rs2072283918, ClinGen CA387754020, ClinVar RCV001047308, Ensembl rs2072283918, AlphaMissense 0.14, MetaLR 0.01, Uncertain significance
- G25* (p.Gly25Ter), rs80358961, ClinGen CA10589005, ClinVar RCV000257648, gnomAD rs80358961, AlphaMissense 0.92, MetaLR 0.08, Pathogenic, in BC
- G25A (p.Gly25Ala), Ensembl rs2072284044, Uncertain significance, in BC
- G25E (p.Gly25Glu), rs2072284044, ClinGen CA387754038, ClinVar RCV001316675, Ensembl rs2072284044, AlphaMissense 0.86, MetaLR 0.08, Uncertain significance, in BC
- G25R (p.Gly25Arg), rs80358961, UniProt VAR 028167, gnomAD rs80358961, ClinGen CA025054, REVEL 0.37, AlphaMissense 0.92, Pathogenic, in BC
- G25V (p.Gly25Val), Ensembl rs2072284044, MetaLR 0.08, MetaSVM -1.18, Uncertain significance, in BC
- P26A (p.Pro26Ala), Ensembl rs2138703603, Uncertain significance
- P26L (p.Pro26Leu), rs1566215668, ClinGen CA387754049, ClinVar RCV000758951, ClinVar RCV001026823, REVEL 0.31, MetaLR 0.08, Uncertain significance
- P26Q (p.Pro26Gln), TOPMed rs1566215668, gnomAD rs1566215668, Uncertain significance
- P26R (p.Pro26Arg), rs1566215668, ClinGen CA387754048, ClinVar RCV001340219, ClinVar RCV002412065, REVEL 0.29, MetaLR 0.08, Uncertain significance
- P26S (p.Pro26Ser), rs2138703603, ClinGen CA387754044, ClinVar RCV002257063, Ensembl rs2138703603, AlphaMissense 0.51, MetaLR 0.08, Uncertain significance
- P26T (p.Pro26Thr), Ensembl rs2138703603, MetaLR 0.08, MetaSVM -1.18, Uncertain significance
- P26P (p.Pro26Pro), rs772146565, gnomAD 13-32319087-A-G, CADD 7.42
- I27R (p.Ile27Arg), rs2548511097, ClinGen CA387754059, ClinVar RCV002419490, Uncertain significance
- I27L (p.Ile27Leu), ExAC rs80359034, TOPMed rs80359034, gnomAD rs80359034, MetaLR 0.00, MetaSVM -0.95, Benign
- I27M (p.Ile27Met), rs1555280333, ClinGen CA387754061, ClinVar RCV000562416, ClinVar RCV000637691, REVEL 0.10, MetaLR 0.01, Likely benign
- I27V (p.Ile27Val), rs80359034, ClinGen CA025394, ClinVar RCV000113106, ClinVar RCV000164869, REVEL 0.06, MetaLR 0.00, Benign
- I27I (p.Ile27Ile), gnomAD 13-32319090-A-C, CADD 9.71
- S28C (p.Ser28Cys), Ensembl rs864622464, Uncertain significance
- S28G (p.Ser28Gly), rs864622464, ClinGen CA349344, ClinVar RCV000205144, ClinVar RCV002291594, AlphaMissense 0.42, MetaLR 0.02, Uncertain significance
- S28I (p.Ser28Ile), rs1064793060, ClinGen CA387754072, ClinVar RCV002434908, AlphaMissense 0.64, MetaLR 0.02, Uncertain significance
- S28N (p.Ser28Asn), rs1064793060, ClinGen CA16619635, ClinVar RCV000478054, ClinVar RCV000571400, REVEL 0.26, AlphaMissense 0.64, Uncertain significance
- S28R (p.Ser28Arg), Ensembl rs2138703678, NCI-TCGA Cosmic COSV1012, cosmic curated COSV10120, Likely benign
- S28T (p.Ser28Thr), Ensembl rs1064793060, MetaLR 0.02, MetaSVM -1.17, Uncertain significance
- L29F (p.Leu29Phe), rs1424422846, ClinGen CA387754078, ClinVar RCV003530303, TOPMed rs1424422846, AlphaMissense 0.23, MetaLR 0.02, Pathogenic
- L29H (p.Leu29His), Ensembl rs1135401889, Uncertain significance
- L29I (p.Leu29Ile), rs1424422846, ClinGen CA387754080, NCI-TCGA Cosmic COSV6646, cosmic curated COSV66462, AlphaMissense 0.23, MetaLR 0.02, Pathogenic
- L29R (p.Leu29Arg), rs1135401889, ClinGen CA387754086, ClinVar RCV000496931, Ensembl rs1135401889, AlphaMissense 0.36, MetaLR 0.02, Uncertain significance
- L29V (p.Leu29Val), rs1424422846, ClinGen CA387754079, ClinVar RCV000575119, ClinVar RCV001338520, REVEL 0.11, AlphaMissense 0.23, Pathogenic
- N30D (p.Asn30Asp), rs1253463092, ClinGen CA387754088, ClinVar RCV000586126, ClinVar RCV002377210, AlphaMissense 0.17, MetaLR 0.01, Uncertain significance
- N30H (p.Asn30His), rs1253463092, ClinGen CA387754087, ClinVar RCV000574736, ClinVar RCV001338114, REVEL 0.09, AlphaMissense 0.17, Uncertain significance
- N30I (p.Asn30Ile), Ensembl rs2072284356, Uncertain significance
- N30K (p.Asn30Lys), rs760655471, ExAC rs760655471, TOPMed rs760655471, gnomAD rs760655471, REVEL 0.14, MetaLR 0.01, Likely benign
- N30S (p.Asn30Ser), rs2072284356, ClinGen CA387754093, ClinVar RCV001175886, ClinVar RCV002298879, REVEL 0.10, MetaLR 0.02, Uncertain significance
- N30Y (p.Asn30Tyr), gnomAD rs1253463092, MetaLR 0.01, MetaSVM -1.11, Uncertain significance
- N30T (p.Asn30Thr), gnomAD 13-32319098-A-C, REVEL 0.10, MetaLR 0.02
- N30N (p.Asn30Asn), rs760655471, gnomAD 13-32319099-T-C, CADD 8.12
- W31* (p.Trp31Ter), rs2138703748, ClinGen CA2499222016, ClinVar RCV001528202, ClinVar RCV006467642, AlphaMissense 0.91, MetaLR 0.08, Pathogenic, in BC
- W31C (p.Trp31Cys), rs80359214, ClinGen CA026139, ClinVar RCV000164584, ClinVar RCV000529455, REVEL 0.42, MetaLR 0.08, Pathogenic, in BC
- W31G (p.Trp31Gly), rs80359182, ClinGen CA387754107, ClinVar RCV000568041, ClinVar RCV000759687, AlphaMissense 0.99, MetaLR 0.07, Likely pathogenic, in BC
- W31L (p.Trp31Leu), rs397508045, ClinGen CA6940322, ClinVar RCV000240757, ClinVar RCV000573741, AlphaMissense 0.91, MetaLR 0.08, Pathogenic, in BC
- W31R (p.Trp31Arg), rs80359182, ClinGen CA026029, ClinVar RCV000113123, ClinVar RCV001378307, AlphaMissense 0.99, MetaLR 0.07, Pathogenic, in BC
- W31S (p.Trp31Ser), rs397508045, ClinGen CA387754108, ClinVar RCV003031127, ClinVar RCV003138442, AlphaMissense 0.91, MetaLR 0.08, Pathogenic, in BC
- F32C (p.Phe32Cys), Ensembl rs2138703786
- F32I (p.Phe32Ile), Ensembl rs397508057, Uncertain significance, in BC
- F32L (p.Phe32Leu), rs397508057, ClinGen CA026180, cosmic curated COSV66454, ClinVar RCV000132090, AlphaMissense 0.95, MetaLR 0.04, Pathogenic, in BC
- F32Y (p.Phe32Tyr), Ensembl rs2138703786, MetaLR 0.04, MetaSVM -1.21
- E33* (p.Glu33Ter), rs397508065, ClinGen CA026299, cosmic curated COSV10606, ClinVar RCV000256555, AlphaMissense 0.20, MetaLR 0.03, Pathogenic
- E33D (p.Glu33Asp), Ensembl rs2138703814
- E33K (p.Glu33Lys), rs397508065, ClinGen CA387754128, ClinVar RCV001238658, ClinVar RCV003294128, AlphaMissense 0.20, MetaLR 0.03, Pathogenic
- E33Q (p.Glu33Gln), Ensembl rs397508065, Pathogenic
- E33V (p.Glu33Val), Ensembl rs2138703810, MetaLR 0.04, MetaSVM -1.22
- E33G (p.Glu33Gly), gnomAD 13-32319107-A-G, REVEL 0.17, MetaLR 0.04
- E34* (p.Glu34Ter), rs80358391, ClinGen CA010238, ClinVar RCV000043711, ClinVar RCV000113128, AlphaMissense 0.68, MetaLR 0.05, Pathogenic
- E34D (p.Glu34Asp), ExAC rs762819719, TOPMed rs762819719, gnomAD rs762819719, Likely benign
- E34G (p.Glu34Gly), Ensembl rs2138703826
Public BRCA2 analysis runs
- BRCA2 analysis run — BRCA2 (16,922 variants) — completed 2026-08-10