RAD51D (O75771) variants and mutations
RAD51D (also known as O75771) is a human protein-coding gene encoding a DNA repair protein RAD51 homolog 4 protein. It supports RAD51-mediated homologous recombination and chromosome stability after DNA double-strand breaks. Heterozygous loss-of-function variants confer substantial ovarian-cancer risk and a more moderate increase in breast-cancer susceptibility. This analysis covers 1,708 RAD51D variants and mutations. Of these, 43% have computational variant effect predictions. Disease context includes Hereditary breast and ovarian cancer syndrome, ovarian cancer, and hereditary breast ovarian cancer syndrome. Example RAD51D variants include M1K, M1L, and M1R.
Variant analysis overview
- Gene: RAD51D
- Protein: O75771
- UniProt accession: O75771
- Organism: Homo sapiens
- Variants analyzed: 1708
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,605 unspecified-consequence records; 19 frameshift variants; 61 synonymous variants; 5 in-frame deletions; 5 splice-region variants; 9 missense variants; 1 in-frame insertions; 2 substitution
- Prediction scores: 729 variants have prediction scores (43% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Hereditary breast and ovarian cancer syndrome, ovarian cancer, hereditary breast ovarian cancer syndrome, ovarian carcinoma, RAD51D-related cancer predisposition, hereditary neoplastic syndrome, Inherited cancer-predisposing syndrome, gastric cancer, cancer, familial ovarian cancer, breast cancer, breast-ovarian cancer, familial, susceptibility to, 1.
Protein structure and variant hotspots
- Protein features: 1 binding sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable RAD51D variants
Examples include M1K, M1L, M1R, M1T, M1V, G2A, G2C, G2D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1K (p.Met1Lys), rs1064794619, ClinGen CA399092629, ClinVar RCV000522287, ClinVar RCV001805135, Conflicting interpretations, Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- M1L (p.Met1Leu), rs561425038, ClinGen CA16620397, ClinVar RCV000484387, ClinVar RCV000558858, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- M1R (p.Met1Arg), rs1064794619, ClinGen CA16620396, ClinVar RCV000481968, ClinVar RCV001865452, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Hereditary breast ovarian
- M1T (p.Met1Thr), rs1064794619, ClinGen CA399092628, ClinVar RCV000521853, ClinVar RCV000809878, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Breast-ovarian cancer, fa
- M1V (p.Met1Val), rs561425038, ClinGen CA287962, ClinVar RCV000505741, ClinVar RCV000574809, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Hereditary breast ovarian
- G2A (p.Gly2Ala), rs763716638, ClinGen CA8499710, ClinVar RCV000574423, ClinVar RCV000588399, REVEL 0.10, CADD 22.40, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Breast-ovarian cancer, fa
- G2C (p.Gly2Cys), rs372082751, ClinGen CA8499711, ClinVar RCV000483125, ClinVar RCV001055029, REVEL 0.15, CADD 24.80, Uncertain significance, not provided; Breast-ovarian cancer, familial, susceptibility to, 4
- G2D (p.Gly2Asp), rs763716638, ClinGen CA399092609, ClinVar RCV000557200, ClinVar RCV000561326, REVEL 0.11, CADD 24.10, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- G2R (p.Gly2Arg), ESP rs372082751, ExAC rs372082751, TOPMed rs372082751, gnomAD rs372082751, Uncertain significance
- G2S (p.Gly2Ser), rs372082751, ClinGen CA299954, ClinVar RCV000160955, ClinVar RCV000554222, REVEL 0.14, CADD 23.70, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Breast-ovarian cancer, fa
- V3A (p.Val3Ala), Ensembl rs2142481039
- V3E (p.Val3Glu), Ensembl rs2142481039
- V3G (p.Val3Gly), Ensembl rs2142481039
- V3L (p.Val3Leu), ExAC rs758124349, gnomAD rs758124349, Uncertain significance
- V3M (p.Val3Met), rs758124349, ClinGen CA8499709, ClinVar RCV000218481, ClinVar RCV000649710, REVEL 0.04, CADD 17.80, Uncertain significance, not provided; not specified; Hereditary cancer-predisposing syndrome
- L4F (p.Leu4Phe), rs1555570507, ClinGen CA399092589, ClinVar RCV000583884, ClinVar RCV003459449, REVEL 0.24, CADD 26.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- L4H (p.Leu4His), cosmic curated COSV10454, Ensembl rs2142481000, Uncertain significance
- L4P (p.Leu4Pro), rs2142481000, ClinGen CA399092584, ClinVar RCV003644222, ClinVar RCV004943180, REVEL 0.47, CADD 28.60, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- L4V (p.Leu4Val), rs1555570507, ClinGen CA399092592, ClinVar RCV001233451, Ensembl rs1555570507, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- R5G (p.Arg5Gly), rs876660779, ClinGen CA399092577, ClinVar RCV003380063, TOPMed rs876660779, Uncertain significance, Hereditary cancer-predisposing syndrome
- R5K (p.Arg5Lys), rs2091799333, ClinGen CA399092570, cosmic curated COSV50101, ClinVar RCV001174869, Uncertain significance, not specified
- R5M (p.Arg5Met), rs2091799333, ClinGen CA399092573, ClinVar RCV003644195, Ensembl rs2091799333, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- R5S (p.Arg5Ser), rs2142480932, Ensembl rs2142480932, ClinGen CA399092565, ClinVar RCV002016902, REVEL 0.26, CADD 22.40, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- R5T (p.Arg5Thr), Ensembl rs2091799333, Uncertain significance, Hereditary cancer-predisposing syndrome
- R5W (p.Arg5Trp), rs876660779, ClinGen CA10580477, ClinVar RCV000219915, ClinVar RCV003642879, REVEL 0.28, CADD 25.10, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- V6A (p.Val6Ala), Ensembl rs2142480900, Likely benign, Hereditary cancer-predisposing syndrome
- V6D (p.Val6Asp), Ensembl rs2142480900
- V6F (p.Val6Phe), rs368198698, ClinGen CA399092561, ClinVar RCV000773696, Ensembl rs368198698, Uncertain significance, Hereditary cancer-predisposing syndrome
- V6G (p.Val6Gly), Ensembl rs2142480900
- V6I (p.Val6Ile), rs368198698, ClinGen CA193835, ClinVar RCV000165618, ClinVar RCV001228012, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- V6L (p.Val6Leu), rs368198698, ClinGen CA290007306, ClinVar RCV001192468, ClinVar RCV001859166, REVEL 0.04, CADD 20.50, Uncertain significance, Hereditary cancer-predisposing syndrome; not specified; Breast-ovarian cancer, f
- G7* (p.Gly7Ter), rs1064795913, ClinGen CA399092548, ClinVar RCV001231386, Ensembl rs1064795913, Pathogenic
- G7A (p.Gly7Ala), gnomAD rs1555570504, Uncertain significance
- G7E (p.Gly7Glu), rs1555570504, ClinGen CA399092542, ClinVar RCV000535026, ClinVar RCV001805187, REVEL 0.28, CADD 24.50, Uncertain significance, not provided; Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary
- G7R (p.Gly7Arg), rs1064795913, ClinGen CA16620395, ClinVar RCV000478762, ClinVar RCV000816357, REVEL 0.26, CADD 25.50, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- G7V (p.Gly7Val), gnomAD rs1555570504, Uncertain significance
- L8M (p.Leu8Met), NCI-TCGA Cosmic COSV9933, cosmic curated COSV99338, Uncertain significance, Hereditary cancer-predisposing syndrome
- L8P (p.Leu8Pro), rs2142480837, ClinGen CA399092532, ClinVar RCV002450251, Uncertain significance, Hereditary cancer-predisposing syndrome
- L8Q (p.Leu8Gln), Ensembl rs2142480837, REVEL 0.28, CADD 28.10
- L8V (p.Leu8Val), rs876659203, ClinGen CA10580476, ClinVar RCV000214125, ClinVar RCV002519687, REVEL 0.13, CADD 24.20, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- C9* (p.Cys9Ter), rs2509189216, ClinGen CA2582342161, ClinVar RCV003334756, CADD 35.00, Pathogenic
- C9F (p.Cys9Phe), rs140825795, ClinGen CA399092517, cosmic curated COSV50100, ClinVar RCV000524888, REVEL 0.28, CADD 26.50, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Breast-ovarian cancer, fa
- C9G (p.Cys9Gly), Ensembl rs2142480809
- C9R (p.Cys9Arg), Ensembl rs2142480809
- C9S (p.Cys9Ser), Ensembl rs2142480809, REVEL 0.22, CADD 23.70, Conflicting interpretations, Hereditary cancer; Breast and/or ovarian cancer; Hereditary cancer-predisposing
- C9W (p.Cys9Trp), 1000Genomes rs200487648, ExAC rs200487648, TOPMed rs200487648, gnomAD rs200487648, Pathogenic
- C9Y (p.Cys9Tyr), rs140825795, ClinGen CA399092518, ClinVar RCV001219272, ClinVar RCV002436844, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- P10A (p.Pro10Ala), cosmic curated COSV99338, TOPMed rs1555570500, Uncertain significance
- P10H (p.Pro10His), cosmic curated COSV50105, ExAC rs759505297, TOPMed rs759505297, gnomAD rs759505297, REVEL 0.47, CADD 26.70, Uncertain significance
- P10L (p.Pro10Leu), rs759505297, ClinGen CA8499708, ClinVar RCV000550362, ClinVar RCV000571598, REVEL 0.42, CADD 27.30, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary breast ovarian
- P10R (p.Pro10Arg), ExAC rs759505297, TOPMed rs759505297, gnomAD rs759505297, REVEL 0.51, CADD 26.60, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- P10S (p.Pro10Ser), rs1555570500, ClinGen CA399092512, ClinVar RCV000568308, ClinVar RCV000589109, REVEL 0.39, CADD 26.70, Uncertain significance, not provided; Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary
- G11A (p.Gly11Ala), Ensembl rs2091798661, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- G11C (p.Gly11Cys), rs776471760, ClinGen CA399092508, ClinVar RCV000561204, ClinVar RCV001320501, REVEL 0.35, CADD 28.00, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- G11D (p.Gly11Asp), rs2091798661, ClinGen CA399092507, ClinVar RCV001063334, ClinVar RCV002451274, REVEL 0.25, CADD 25.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- G11R (p.Gly11Arg), rs776471760, ClinGen CA399092509, ClinVar RCV000569445, ClinVar RCV001042046, REVEL 0.28, CADD 26.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- G11S (p.Gly11Ser), ExAC rs776471760, TOPMed rs776471760, gnomAD rs776471760, REVEL 0.21, CADD 27.10, Uncertain significance
- G11V (p.Gly11Val), Ensembl rs2091798661, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- L12F (p.Leu12Phe), rs773065220, ClinGen CA399092500, ClinVar RCV001020462, ClinVar RCV002549517, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- L12H (p.Leu12His), Ensembl rs2142480636, REVEL 0.49, CADD 27.70
- L12P (p.Leu12Pro), Ensembl rs2142480636, REVEL 0.48, CADD 28.60
- L12V (p.Leu12Val), rs773065220, ClinGen CA8499704, ClinVar RCV000544100, ClinVar RCV000570834, REVEL 0.22, CADD 25.40, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- T13A (p.Thr13Ala), rs2142480616, ClinGen CA399092487, ClinVar RCV002363949, REVEL 0.06, CADD 20.80, Uncertain significance, Hereditary cancer-predisposing syndrome
- T13I (p.Thr13Ile), rs1064795830, ClinGen CA16620394, ClinVar RCV000486273, ClinVar RCV000546552, REVEL 0.07, CADD 24.70, Uncertain significance, not provided; Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary
- T13N (p.Thr13Asn), rs1064795830, ClinGen CA399092483, ClinVar RCV001038539, TOPMed rs1064795830, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- T13S (p.Thr13Ser), Ensembl rs2142480616, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- E14* (p.Glu14Ter), 1000Genomes rs562456790, TOPMed rs562456790, gnomAD rs562456790, Uncertain significance
- E14D (p.Glu14Asp), Ensembl rs2142480559, Likely benign
- E14K (p.Glu14Lys), rs562456790, ClinGen CA290007282, ClinVar RCV000579883, ClinVar RCV000649699, REVEL 0.04, CADD 20.70, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- E14Q (p.Glu14Gln), rs562456790, ClinGen CA399092476, cosmic curated COSV50103, ClinVar RCV003644359, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- E14V (p.Glu14Val), rs2142480572, ClinGen CA399092468, ClinVar RCV003527887, Ensembl rs2142480572, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- E15* (p.Glu15Ter), rs775510420, ClinGen CA399092456, ClinVar RCV004439951, Pathogenic
- E15D (p.Glu15Asp), Ensembl rs2142480518, Likely benign
- E15K (p.Glu15Lys), rs775510420, ClinGen CA8499702, ClinVar RCV001022428, ExAC rs775510420, Uncertain significance, Hereditary cancer-predisposing syndrome
- E15Q (p.Glu15Gln), ExAC rs775510420, gnomAD rs775510420, Uncertain significance
- E15V (p.Glu15Val), rs1567736383, ClinGen CA399092449, ClinVar RCV000818239, Ensembl rs1567736383, REVEL 0.07, CADD 29.90, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- M16I (p.Met16Ile), rs2142480482, ClinGen CA399092422, ClinVar RCV003448740, Ensembl rs2142480482, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- M16K (p.Met16Lys), Ensembl rs797044943, Likely benign
- M16L (p.Met16Leu), rs2142480504, ClinGen CA399092436, ClinVar RCV002045942, Ensembl rs2142480504, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- M16R (p.Met16Arg), Ensembl rs797044943, Likely benign
- M16T (p.Met16Thr), rs797044943, ClinGen CA204858, cosmic curated COSV50101, ClinVar RCV001371205, REVEL 0.04, CADD 18.20, Conflicting interpretations, Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- M16V (p.Met16Val), rs2142480504, ClinGen CA399092438, ClinVar RCV001876694, ClinVar RCV003164073, REVEL 0.09, CADD 21.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- I17F (p.Ile17Phe), gnomAD rs1002032036, Uncertain significance
- I17L (p.Ile17Leu), gnomAD rs1002032036, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- I17M (p.Ile17Met), rs769903986, ClinGen CA399092403, ClinVar RCV003643615, ExAC rs769903986, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- I17N (p.Ile17Asn), gnomAD rs1464129449, Uncertain significance
- I17S (p.Ile17Ser), gnomAD rs1464129449, Uncertain significance
- I17T (p.Ile17Thr), rs1464129449, ClinGen CA399092408, ClinVar RCV002335993, ClinVar RCV003096614, REVEL 0.11, CADD 24.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- I17V (p.Ile17Val), rs1002032036, ClinGen CA290007271, ClinVar RCV000816764, ClinVar RCV000986016, REVEL 0.03, CADD 13.30, Conflicting interpretations, Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- Q18* (p.Gln18Ter), rs2509188925, ClinGen CA399092396, ClinVar RCV004440022, ClinVar RCV005475539, Pathogenic
- Q18H (p.Gln18His), rs1331918329, ClinGen CA399092389, ClinVar RCV002351650, gnomAD rs1331918329, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q18R (p.Gln18Arg), rs546225564, ClinGen CA8499700, ClinVar RCV000219745, ClinVar RCV000409529, REVEL 0.02, CADD 20.30, Conflicting interpretations, not provided; Hereditary cancer-predisposing syndrome; not specified
- L19F (p.Leu19Phe), rs2091797904, ClinGen CA399092384, ClinVar RCV001184879, ClinVar RCV002559877, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- L19H (p.Leu19His), TOPMed rs1044486334, gnomAD rs1044486334, Uncertain significance
- L19P (p.Leu19Pro), rs1044486334, ClinGen CA290007258, cosmic curated COSV10723, ClinVar RCV000573653, REVEL 0.22, CADD 23.90, Uncertain significance, not specified; Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, f
- L20F (p.Leu20Phe), rs1555570487, ClinGen CA399092366, ClinVar RCV000580635, ClinVar RCV001219918, REVEL 0.27, CADD 25.40, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- L20H (p.Leu20His), Ensembl rs1555570486, Uncertain significance
- L20P (p.Leu20Pro), Ensembl rs1555570486, Uncertain significance
- L20R (p.Leu20Arg), rs1555570486, ClinGen CA399092362, ClinVar RCV000544680, Ensembl rs1555570486, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- L20V (p.Leu20Val), TOPMed rs1555570487, gnomAD rs1555570487, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- R21K (p.Arg21Lys), Ensembl rs2091797738, Uncertain significance
- R21M (p.Arg21Met), rs2091797738, ClinGen CA399092351, ClinVar RCV001217073, Ensembl rs2091797738, REVEL 0.11, CADD 22.80, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- R21T (p.Arg21Thr), Ensembl rs2091797738, Uncertain significance
- S22C (p.Ser22Cys), gnomAD rs2091797688
- S22G (p.Ser22Gly), gnomAD rs2091797688, REVEL 0.01, CADD 18.40, Uncertain significance, not provided; Breast-ovarian cancer, familial, susceptibility to, 4
- S22I (p.Ser22Ile), Ensembl rs2142480287, Uncertain significance
- S22N (p.Ser22Asn), rs2142480287, ClinGen CA399092336, ClinVar RCV001993839, Ensembl rs2142480287, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- S22R (p.Ser22Arg), rs876660902, TOPMed rs876660902, gnomAD rs876660902, ClinGen CA399092326, REVEL 0.02, CADD 19.40, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- S22T (p.Ser22Thr), Ensembl rs2142480287, Uncertain significance
- H23D (p.His23Asp), Ensembl rs2142480259, REVEL 0.06, CADD 15.70
- H23Q (p.His23Gln), rs1597878540, ClinGen CA399092307, ClinVar RCV002005006, TOPMed rs1597878540, REVEL 0.01, CADD 9.37, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- H23R (p.His23Arg), rs990062370, ClinGen CA16620393, ClinVar RCV000485429, ClinVar RCV000547804, REVEL 0.02, CADD 2.60, Conflicting interpretations, not provided; Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary
- H23Y (p.His23Tyr), Ensembl rs2142480259
- R24G (p.Arg24Gly), rs781611267, ClinGen CA8499699, ClinVar RCV000649692, ClinVar RCV001190144, REVEL 0.01, CADD 12.30, Conflicting interpretations, Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- R24K (p.Arg24Lys), rs947444435, ClinGen CA290007242, ClinVar RCV000775968, ClinVar RCV001218852, REVEL 0.03, CADD 16.90, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Breast-ovarian cancer, fa
- R24S (p.Arg24Ser), rs28363257, ClinGen CA8499698, ClinVar RCV000226520, ClinVar RCV000562459, REVEL 0.06, CADD 18.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- R24T (p.Arg24Thr), rs947444435, ClinGen CA399092302, ClinVar RCV003643657, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- R24W (p.Arg24Trp), rs781611267, ClinGen CA399092304, ClinVar RCV000649696, ExAC rs781611267, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- I25L (p.Ile25Leu), rs1597878522, ClinGen CA399092294, ClinVar RCV001026385, ClinVar RCV001862366, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- I25M (p.Ile25Met), TOPMed rs1555570482, gnomAD rs1555570482, Likely benign
- I25N (p.Ile25Asn), rs2091797279, ClinGen CA399092285, ClinVar RCV001188812, gnomAD rs2091797279, Uncertain significance, Hereditary cancer-predisposing syndrome
- I25S (p.Ile25Ser), gnomAD rs2091797279, REVEL 0.28, CADD 28.40, Uncertain significance
- I25T (p.Ile25Thr), rs2091797279, ClinGen CA399092287, ClinVar RCV004516273, REVEL 0.22, CADD 24.60, Uncertain significance, Hereditary cancer-predisposing syndrome
- I25V (p.Ile25Val), rs1597878522, ClinGen CA399092292, ClinVar RCV001977700, Ensembl rs1597878522, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- K26* (p.Lys26Ter), Ensembl rs2142480156
- K26E (p.Lys26Glu), Ensembl rs2142480156
- K26M (p.Lys26Met), gnomAD rs1060502961, Uncertain significance
- K26N (p.Lys26Asn), rs2142480132, Ensembl rs2142480132, ClinGen CA399092264, ClinVar RCV002801444, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- K26R (p.Lys26Arg), rs1060502961, ClinGen CA16615619, ClinVar RCV000466122, ClinVar RCV001026822, REVEL 0.03, CADD 14.90, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, fa
- T27A (p.Thr27Ala), Ensembl rs2142480115, Uncertain significance, Hereditary cancer-predisposing syndrome
- T27I (p.Thr27Ile), rs139642328, ClinGen CA399092243, ClinVar RCV000571331, ClinVar RCV000649675, REVEL 0.37, CADD 33.00, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Breast-ovarian cancer, fa
- T27K (p.Thr27Lys), rs139642328, ClinGen CA16615737, ClinVar RCV000473688, ClinVar RCV000568530, REVEL 0.38, CADD 27.20, Conflicting interpretations, Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- T27P (p.Thr27Pro), Ensembl rs2142480115, Uncertain significance
- T27R (p.Thr27Arg), 1000Genomes rs139642328, TOPMed rs139642328, gnomAD rs139642328, Uncertain significance
- T27S (p.Thr27Ser), rs2142480115, ClinGen CA399092252, ClinVar RCV002419135, ClinVar RCV003528383, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- V28E (p.Val28Glu), Ensembl rs2142477940
- V28L (p.Val28Leu), rs2142480064, ClinGen CA399092236, ClinVar RCV002430340, ClinVar RCV003454215, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- V28M (p.Val28Met), rs2142480064, ClinGen CA399092238, ClinVar RCV002430335, ClinVar RCV005869814, REVEL 0.25, CADD 36.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- V29A (p.Val29Ala), rs1567735899, ClinGen CA399092030, ClinVar RCV000709455, ClinVar RCV000792440, REVEL 0.03, CADD 22.70, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Hereditary breast ovarian cancer syndro
- V29L (p.Val29Leu), rs1555570422, ClinGen CA399092036, ClinVar RCV001964288, Ensembl rs1555570422, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- V29M (p.Val29Met), rs1555570422, ClinGen CA399092040, ClinVar RCV000584301, ClinVar RCV001217700, REVEL 0.09, CADD 25.20, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- D30A (p.Asp30Ala), Ensembl rs1555570421, Uncertain significance
- D30E (p.Asp30Glu), ESP rs374725981, ExAC rs374725981, TOPMed rs374725981, gnomAD rs374725981, REVEL 0.19, CADD 25.40, Likely benign
- D30G (p.Asp30Gly), rs1555570421, ClinGen CA399092021, ClinVar RCV000579434, ClinVar RCV003642896, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- D30H (p.Asp30His), rs2142477868, ClinGen CA399092026, ClinVar RCV001372929, ClinVar RCV004945102, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- D30N (p.Asp30Asn), rs2142477868, ClinGen CA399092028, ClinVar RCV002376056, Ensembl rs2142477868, REVEL 0.38, CADD 29.80, Uncertain significance, Hereditary cancer-predisposing syndrome
- L31P (p.Leu31Pro), rs2142477822, ClinGen CA399092003, ClinVar RCV002371538, Ensembl rs2142477822, REVEL 0.62, CADD 31.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- L31Q (p.Leu31Gln), Ensembl rs2142477822, Uncertain significance
- L31V (p.Leu31Val), Ensembl rs2142477835, Uncertain significance, not specified
- V32G (p.Val32Gly), rs2509185761, ClinGen CA399091991, ClinVar RCV003301200, Uncertain significance, Hereditary cancer-predisposing syndrome
- V32I (p.Val32Ile), rs876659111, ClinGen CA10580474, NCI-TCGA Cosmic COSV9933, cosmic curated COSV99338, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- V32L (p.Val32Leu), Ensembl rs876659111, REVEL 0.07, CADD 23.90, Uncertain significance, Hereditary cancer-predisposing syndrome
- S33C (p.Ser33Cys), Ensembl rs2142477736
- S33F (p.Ser33Phe), NCI-TCGA Cosmic COSV5010, cosmic curated COSV50100, Ensembl rs2142477736, Uncertain significance, Hereditary cancer-predisposing syndrome
- S33P (p.Ser33Pro), Ensembl rs2142477750
- S33T (p.Ser33Thr), Ensembl rs2142477750
- S33Y (p.Ser33Tyr), Ensembl rs2142477736
- A34E (p.Ala34Glu), TOPMed rs876658968, gnomAD rs876658968, Uncertain significance
- A34G (p.Ala34Gly), TOPMed rs876658968, gnomAD rs876658968, Uncertain significance
- A34P (p.Ala34Pro), Ensembl rs1555570419, Uncertain significance
- A34T (p.Ala34Thr), rs1555570419, ClinGen CA399091967, ClinVar RCV000649690, ClinVar RCV004025788, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- A34V (p.Ala34Val), rs876658968, ClinGen CA10580473, ClinVar RCV000214363, ClinVar RCV000588755, REVEL 0.10, CADD 33.00, Uncertain significance, not specified; Hereditary cancer-predisposing syndrome; not provided
- D35A (p.Asp35Ala), Ensembl rs2091788848, Uncertain significance
- D35E (p.Asp35Glu), Ensembl rs1555570413, Likely benign
- D35G (p.Asp35Gly), rs2091788848, ClinGen CA399091945, ClinVar RCV002394859, Ensembl rs2091788848, Uncertain significance, Hereditary cancer-predisposing syndrome
- D35H (p.Asp35His), Ensembl rs2142477653
- D35N (p.Asp35Asn), Ensembl rs2142477653
- D35V (p.Asp35Val), rs2091788848, ClinGen CA399091941, ClinVar RCV001234288, ClinVar RCV005722342, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- L36M (p.Leu36Met), rs1597877703, ClinGen CA399091936, ClinVar RCV000814230, ClinVar RCV003127473, Conflicting interpretations, Breast-ovarian cancer, familial, susceptibility to, 4; not provided; Hereditary
- L36P (p.Leu36Pro), Ensembl rs2142477592
- L36Q (p.Leu36Gln), Ensembl rs2142477592
- L36V (p.Leu36Val), rs1597877703, ClinGen CA399091934, ClinVar RCV001017192, ClinVar RCV001860857, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- E37* (p.Glu37Ter), cosmic curated COSV10454
- E37K (p.Glu37Lys), rs876659848, ClinGen CA399091923, ClinVar RCV001934978, ClinVar RCV002449496, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- E37Q (p.Glu37Gln), rs876659848, ClinGen CA10580472, ClinVar RCV000220747, ClinVar RCV000552277, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- E37V (p.Glu37Val), rs2509185546, ClinGen CA399091913, ClinVar RCV003081493, REVEL 0.30, CADD 34.00, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4
- E38* (p.Glu38Ter), cosmic curated COSV99338
- E38G (p.Glu38Gly), Ensembl rs2142477523
- E38K (p.Glu38Lys), rs2142477536, ClinGen CA399091901, ClinVar RCV003472538, Ensembl rs2142477536, REVEL 0.13, CADD 24.70, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary cancer-predisp
- E38Q (p.Glu38Gln), Ensembl rs2142477536, Uncertain significance
Public RAD51D analysis runs
- RAD51D analysis run — RAD51D (1,708 variants) — completed 2026-08-18