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.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
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