RAD51C (O43502) variants and mutations
RAD51C (also known as O43502) is a human protein-coding gene encoding a DNA repair protein RAD51 homolog 3 protein. It participates in RAD51-paralog complexes that promote homologous-recombination repair and restart damaged replication forks. Heterozygous loss-of-function variants increase ovarian and breast-cancer risk, while biallelic variants can cause Fanconi anemia. This analysis covers 1,846 RAD51C variants and mutations. Of these, 62% have computational variant effect predictions. Disease context includes Hereditary breast and ovarian cancer syndrome, Fanconi anemia complementation group O, and Fanconi anemia. Example RAD51C variants include M1I, M1L, and M1T.
Variant analysis overview
- Gene: RAD51C
- Protein: O43502
- UniProt accession: O43502
- Organism: Homo sapiens
- Variants analyzed: 1846
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,700 unspecified-consequence records; 94 synonymous variants; 21 missense variants; 17 frameshift variants; 3 in-frame deletions; 3 splice-region variants; 1 stop lost; 1 in-frame insertions; 1 stop-gained variants; 4 substitution
- Prediction scores: 1,144 variants have prediction scores (62% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Hereditary breast and ovarian cancer syndrome, Fanconi anemia complementation group O, Fanconi anemia, hereditary breast ovarian cancer syndrome, ovarian cancer, cancer, RAD51C-related cancer predisposition, Inherited cancer-predisposing syndrome, hereditary neoplastic syndrome, ovarian carcinoma, breast carcinoma, gastric cancer.
Protein structure and variant hotspots
- Protein features: 1 binding sites; 1 post-translational modification sites.
- PTM context: 7 variants overlap post-translational modification 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 RAD51C variants
Examples include M1I, M1L, M1T, M1V, R2C, R2G, R2H, R2P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs769053886, ClinGen CA337230, ClinVar RCV000197479, ClinVar RCV000567881, MetaLR 0.05, MetaSVM -1.07, Uncertain significance, Hereditary breast ovarian cancer syndrome; Fanconi anemia complementation group
- M1L (p.Met1Leu), rs921435798, ClinGen CA400336042, ClinVar RCV001013982, ClinVar RCV001324864, MetaLR 0.04, MetaSVM -0.97, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia complement
- M1T (p.Met1Thr), rs2143671249, ClinGen CA400336049, ClinVar RCV002435643, MetaLR 0.07, MetaSVM -0.98, Uncertain significance, Hereditary cancer-predisposing syndrome
- M1V (p.Met1Val), rs921435798, ClinGen CA292046776, ClinVar RCV001013978, ClinVar RCV001056536, MetaLR 0.04, MetaSVM -0.97, Uncertain significance, Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- R2C (p.Arg2Cys), rs758029117, ClinGen CA8677116, ClinVar RCV002259186, ExAC rs758029117, REVEL 0.04, CADD 0.79, Conflicting interpretations, Hereditary cancer-predisposing syndrome
- R2G (p.Arg2Gly), rs758029117, ClinGen CA400336071, ClinVar RCV000663126, ClinVar RCV000772906, REVEL 0.05, CADD 0.61, Conflicting interpretations, Breast-ovarian cancer, familial, susceptibility to, 3; Hereditary cancer-predisp
- R2H (p.Arg2His), rs2047797645, ClinGen CA400336079, ClinVar RCV002257043, ClinVar RCV003507403, REVEL 0.07, CADD 19.20, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- R2P (p.Arg2Pro), Ensembl rs2047797645, Uncertain significance
- R2S (p.Arg2Ser), ExAC rs758029117, TOPMed rs758029117, gnomAD rs758029117, Uncertain significance
- R2R (p.Arg2Arg), rs1334508786, gnomAD 17-58692649-C-T, CADD 7.55
- G3A (p.Gly3Ala), rs1555591761, ClinGen CA400336097, ClinVar RCV000525076, Ensembl rs1555591761, AlphaMissense 0.10, MetaLR 0.04, Uncertain significance, Fanconi anemia complementation group O
- G3E (p.Gly3Glu), rs1555591761, ClinGen CA400336095, ClinVar RCV000817899, ClinVar RCV001018624, AlphaMissense 0.10, MetaLR 0.04, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- G3R (p.Gly3Arg), rs376403182, ClinGen CA400336093, ClinVar RCV001188570, ClinVar RCV003617911, REVEL 0.05, CADD 10.50, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- G3V (p.Gly3Val), Ensembl rs1555591761, Uncertain significance, Fanconi anemia complementation group O
- G3W (p.Gly3Trp), rs376403182, ClinGen CA400336094, ClinVar RCV001053193, ClinVar RCV004031674, REVEL 0.07, CADD 16.60, Conflicting interpretations, Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- G3G (p.Gly3Gly), rs751117852, gnomAD 17-58692652-G-T, CADD 5.74
- K4* (p.Lys4Ter), Ensembl rs2047798556, Likely benign
- K4E (p.Lys4Glu), rs2047798556, ClinGen CA400336124, ClinVar RCV002443951, ClinVar RCV003618034, AlphaMissense 0.10, MetaLR 0.03, Conflicting interpretations, Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- K4M (p.Lys4Met), Ensembl rs2047798678, REVEL 0.03, AlphaMissense 0.18, Uncertain significance
- K4N (p.Lys4Asn), rs781166242, ClinGen CA400336144, ClinVar RCV002811407, ExAC rs781166242, AlphaMissense 0.16, MetaLR 0.05, Uncertain significance, Fanconi anemia complementation group O
- K4Q (p.Lys4Gln), rs2047798556, ClinGen CA400336117, ClinVar RCV002455594, ClinVar RCV003101864, AlphaMissense 0.10, MetaLR 0.03, Conflicting interpretations, Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- K4R (p.Lys4Arg), rs2047798678, ClinGen CA400336138, ClinVar RCV001874958, Ensembl rs2047798678, AlphaMissense 0.18, MetaLR 0.05, Uncertain significance, Fanconi anemia complementation group O
- K4K (p.Lys4Lys), rs781166242, gnomAD 17-58692655-G-A, AlphaMissense 0.16, MetaLR 0.05
- T5A (p.Thr5Ala), rs1314517659, ClinGen CA400336151, ClinVar RCV002296066, ClinVar RCV004945991, REVEL 0.03, AlphaMissense 0.09, Conflicting interpretations, Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- T5M (p.Thr5Met), rs201523760, ClinGen CA288621, cosmic curated COSV53625, ClinVar RCV000116172, REVEL 0.04, CADD 6.94, Conflicting interpretations, Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complement
- T5P (p.Thr5Pro), gnomAD rs1314517659, REVEL 0.04, AlphaMissense 0.09, Uncertain significance, Fanconi anemia complementation group O
- T5R (p.Thr5Arg), rs201523760, ClinGen CA8677119, ClinVar RCV000572971, ClinVar RCV002526888, REVEL 0.03, CADD 6.46, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- T5S (p.Thr5Ser), rs1314517659, ClinGen CA400336152, ClinVar RCV001779184, ClinVar RCV001859337, AlphaMissense 0.09, MetaLR 0.05, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- T5T (p.Thr5Thr), rs777585467, gnomAD 17-58692658-G-C, CADD 4.06
- F6C (p.Phe6Cys), rs771332058, ClinGen CA400336224, ClinVar RCV002044085, ClinVar RCV005262544, AlphaMissense 0.12, MetaLR 0.03, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- F6I (p.Phe6Ile), ExAC rs749498443, gnomAD rs749498443, Uncertain significance
- F6L (p.Phe6Leu), rs774685897, ClinGen CA400336227, ClinVar RCV001065676, ClinVar RCV002411589, REVEL 0.02, CADD 1.51, Conflicting interpretations, not provided; Fanconi anemia complementation group O; Hereditary cancer-predispo
- F6S (p.Phe6Ser), ExAC rs771332058, TOPMed rs771332058, gnomAD rs771332058, Uncertain significance
- F6V (p.Phe6Val), rs749498443, ClinGen CA400336210, ClinVar RCV000989956, ExAC rs749498443, AlphaMissense 0.09, MetaLR 0.04, Uncertain significance, Fanconi anemia complementation group O
- F6Y (p.Phe6Tyr), rs771332058, ClinGen CA8677122, ClinVar RCV000465983, ClinVar RCV000486672, REVEL 0.03, AlphaMissense 0.12, Conflicting interpretations, Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- F6F (p.Phe6Phe), rs774685897, gnomAD 17-58692661-C-T, CADD 2.04
- R7C (p.Arg7Cys), rs759759863, ClinGen CA400336236, cosmic curated COSV53612, ClinVar RCV000559705, REVEL 0.02, CADD 7.89, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- R7G (p.Arg7Gly), rs759759863, ClinGen CA8677124, ClinVar RCV000701405, ClinVar RCV002422570, REVEL 0.01, CADD 0.38, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not specified; Fanconi anemia complemen
- R7H (p.Arg7His), rs892567748, ClinGen CA292046832, ClinVar RCV000563169, ClinVar RCV000706180, REVEL 0.02, AlphaMissense 0.12, Conflicting interpretations, Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- R7L (p.Arg7Leu), rs892567748, ClinGen CA400336251, ClinVar RCV001043804, TOPMed rs892567748, AlphaMissense 0.12, MetaLR 0.06, Uncertain significance, Fanconi anemia complementation group O
- R7P (p.Arg7Pro), rs892567748, ClinGen CA400336247, ClinVar RCV001014437, ClinVar RCV001030582, AlphaMissense 0.12, MetaLR 0.06, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Hereditary breast ovarian cancer syndro
- R7S (p.Arg7Ser), rs759759863, ClinGen CA400336232, ClinVar RCV000648251, ClinVar RCV001013997, REVEL 0.01, CADD 0.46, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia complement
- R7R (p.Arg7Arg), rs1443654986, gnomAD 17-58692664-C-G, CADD 6.42
- F8I (p.Phe8Ile), rs1349262257, ClinGen CA400336256, ClinVar RCV003618777, gnomAD rs1349262257, REVEL 0.05, CADD 17.70, Uncertain significance, Fanconi anemia complementation group O
- F8L (p.Phe8Leu), rs587782698, ClinGen CA169336, ClinVar RCV000132138, ClinVar RCV000587595, REVEL 0.11, CADD 22.60, Conflicting interpretations, Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- F8V (p.Phe8Val), gnomAD rs1349262257, Uncertain significance
- F8Y (p.Phe8Tyr), Ensembl rs2143673068
- E9* (p.Glu9Ter), Ensembl rs1567782727, Uncertain significance
- E9D (p.Glu9Asp), rs2143673339, Ensembl rs2143673339, ClinGen CA400336348, ClinVar RCV002441530, AlphaMissense 0.12, MetaLR 0.07, Benign, Hereditary cancer-predisposing syndrome
- E9K (p.Glu9Lys), rs1567782727, ClinGen CA400336327, ClinVar RCV002426232, Ensembl rs1567782727, AlphaMissense 0.09, MetaLR 0.06, Benign, Hereditary cancer-predisposing syndrome
- E9Q (p.Glu9Gln), rs1567782727, ClinGen CA400336329, ClinVar RCV000774890, ClinVar RCV005056530, REVEL 0.05, AlphaMissense 0.09, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- E9V (p.Glu9Val), rs2143673258, ClinGen CA400336345, ClinVar RCV001373157, ClinVar RCV004699346, AlphaMissense 0.15, MetaLR 0.08, Conflicting interpretations, Hereditary cancer; Fanconi anemia complementation group O
- E9A (p.Glu9Ala), gnomAD 17-58692669-A-C, REVEL 0.14, CADD 24.30
- M10I (p.Met10Ile), rs775871420, ExAC rs775871420, gnomAD rs775871420, ClinGen CA8677125, REVEL 0.24, CADD 28.90, Uncertain significance, Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- M10K (p.Met10Lys), rs730881936, ClinGen CA400336390, ClinVar RCV003043803, ExAC rs730881936, AlphaMissense 0.36, MetaLR 0.28, Uncertain significance, Fanconi anemia complementation group O
- M10L (p.Met10Leu), rs1452865935, ClinGen CA400336384, ClinVar RCV000561155, ClinVar RCV000703119, REVEL 0.21, AlphaMissense 0.16, Uncertain significance, Fanconi anemia complementation group O; not provided; Hereditary cancer-predispo
- M10R (p.Met10Arg), rs730881936, ClinGen CA299898, ClinVar RCV000160930, ClinVar RCV000212930, REVEL 0.39, AlphaMissense 0.36, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complement
- M10T (p.Met10Thr), rs730881936, ClinGen CA292046852, ClinVar RCV001371879, ClinVar RCV003462938, REVEL 0.29, AlphaMissense 0.36, Uncertain significance, Fanconi anemia complementation group O; Breast-ovarian cancer, familial, suscept
- M10V (p.Met10Val), rs1452865935, ClinGen CA400336377, ClinVar RCV002438032, ClinVar RCV003102853, AlphaMissense 0.16, MetaLR 0.25, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- Q11* (p.Gln11Ter), rs1567782755, ClinGen CA400336417, ClinVar RCV000698142, Ensembl rs1567782755, AlphaMissense 0.08, MetaLR 0.23, Pathogenic
- Q11E (p.Gln11Glu), Ensembl rs1567782755, Pathogenic
- Q11H (p.Gln11His), rs748248444, ClinGen CA292046868, ClinVar RCV003618508, ClinVar RCV004673943, AlphaMissense 0.24, MetaLR 0.14, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- Q11K (p.Gln11Lys), Ensembl rs1567782755, Pathogenic
- Q11L (p.Gln11Leu), TOPMed rs730881937, gnomAD rs730881937, Uncertain significance
- Q11P (p.Gln11Pro), TOPMed rs730881937, gnomAD rs730881937, REVEL 0.24, CADD 28.90, Uncertain significance
- Q11R (p.Gln11Arg), rs730881937, ClinGen CA299901, ClinVar RCV000233682, ClinVar RCV000587134, REVEL 0.19, CADD 27.50, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Hereditary breast ovarian
- Q11Q (p.Gln11Gln), rs748248444, gnomAD 17-58692676-G-A, AlphaMissense 0.24, MetaLR 0.14
- R12G (p.Arg12Gly), rs28910276, ClinGen CA400336434, ClinVar RCV000804140, ClinVar RCV002453783, REVEL 0.29, CADD 32.00, Conflicting interpretations, Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- R12L (p.Arg12Leu), ExAC rs764394130, gnomAD rs764394130, Uncertain significance
- R12P (p.Arg12Pro), rs764394130, ClinGen CA8677127, ClinVar RCV001020689, ClinVar RCV001230013, REVEL 0.22, CADD 32.00, Conflicting interpretations, Breast-ovarian cancer, familial, susceptibility to, 3; Hereditary cancer-predisp
- R12Q (p.Arg12Gln), rs764394130, ClinGen CA400336438, cosmic curated COSV53626, ClinVar RCV000777330, REVEL 0.23, CADD 32.00, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- R12W (p.Arg12Trp), rs28910276, ClinGen CA8677126, ClinVar RCV000464422, ClinVar RCV000485483, REVEL 0.37, CADD 32.00, Conflicting interpretations, Fanconi anemia complementation group O; Breast-ovarian cancer, familial, suscept
- R12R (p.Arg12Arg), rs28910276, gnomAD 17-58692677-C-A, CADD 16.20
- D13E (p.Asp13Glu), rs2143674219, Ensembl rs2143674219, ClinGen CA400336531, ClinVar RCV002375643, AlphaMissense 0.13, MetaLR 0.04, Likely benign, Hereditary cancer-predisposing syndrome
- D13G (p.Asp13Gly), ExAC rs777004225, REVEL 0.13, CADD 25.60
- D13H (p.Asp13His), rs1060502603, ClinGen CA16615434, ClinVar RCV000466259, Ensembl rs1060502603, AlphaMissense 0.15, MetaLR 0.15, Uncertain significance, Fanconi anemia complementation group O
- D13N (p.Asp13Asn), rs1060502603, ClinGen CA400336507, NCI-TCGA Cosmic COSV5362, cosmic curated COSV53627, AlphaMissense 0.15, MetaLR 0.15, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- D13Y (p.Asp13Tyr), rs1060502603, ClinGen CA400336506, ClinVar RCV003319577, ClinVar RCV005714953, REVEL 0.13, AlphaMissense 0.15, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- D13D (p.Asp13Asp), rs2143674219, gnomAD 17-58692682-T-C, AlphaMissense 0.13, MetaLR 0.04
- L14F (p.Leu14Phe), Ensembl rs1598448777, Uncertain significance, Hereditary cancer-predisposing syndrome
- L14M (p.Leu14Met), Ensembl rs2143674315
- L14S (p.Leu14Ser), rs2509260881, ClinGen CA400336554, ClinVar RCV002327862, Uncertain significance, Hereditary cancer-predisposing syndrome
- L14V (p.Leu14Val), Ensembl rs2143674315
- V15A (p.Val15Ala), rs1060502593, ClinGen CA400336599, ClinVar RCV001022594, ClinVar RCV002551856, AlphaMissense 0.06, MetaLR 0.05, Conflicting interpretations, Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- V15E (p.Val15Glu), TOPMed rs1060502593, Likely benign
- V15G (p.Val15Gly), rs1060502593, ClinGen CA16615800, ClinVar RCV000473239, ClinVar RCV002329063, AlphaMissense 0.06, MetaLR 0.05, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- V15L (p.Val15Leu), Ensembl rs2143674492, NCI-TCGA Cosmic COSV9954, Uncertain significance
- V15M (p.Val15Met), NCI-TCGA Cosmic COSV9954, cosmic curated COSV99542, Ensembl rs2143674492, Benign, Hereditary cancer-predisposing syndrome
- V15V (p.Val15Val), rs1598448793, gnomAD 17-58692688-G-A, CADD 13.50
- S16C (p.Ser16Cys), rs762060755, ClinGen CA400336613, ClinVar RCV003011072, ExAC rs762060755, AlphaMissense 0.11, MetaLR 0.09, Uncertain significance, Fanconi anemia complementation group O
- S16G (p.Ser16Gly), rs762060755, ClinGen CA8677129, ClinVar RCV001348951, ClinVar RCV001773696, REVEL 0.05, AlphaMissense 0.11, Conflicting interpretations, not provided; Fanconi anemia complementation group O; Hereditary cancer-predispo
- S16N (p.Ser16Asn), rs1555591843, ClinGen CA400336624, NCI-TCGA Cosmic COSV5362, ClinVar RCV000648268, AlphaMissense 0.32, MetaLR 0.15, Uncertain significance, Fanconi anemia complementation group O
- S16R (p.Ser16Arg), ExAC rs766058636, gnomAD rs766058636, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- S16S (p.Ser16Ser), rs766058636, gnomAD 17-58692691-T-C, CADD 16.20
- F17C (p.Phe17Cys), rs1411454855, ClinGen CA400336669, ClinVar RCV001023547, ClinVar RCV001301354, REVEL 0.07, AlphaMissense 0.38, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- F17I (p.Phe17Ile), Ensembl rs2143674973
- F17L (p.Phe17Leu), rs1598448876, ClinGen CA400336685, ClinVar RCV001023709, Ensembl rs1598448876, AlphaMissense 0.67, MetaLR 0.03, Uncertain significance, Fanconi anemia complementation group O
- F17S (p.Phe17Ser), rs1411454855, ClinGen CA400336673, ClinVar RCV000780674, ClinVar RCV001045174, AlphaMissense 0.38, MetaLR 0.14, Conflicting interpretations, not specified; Hereditary cancer-predisposing syndrome; not provided
- F17V (p.Phe17Val), Ensembl rs2143674973
- F17F (p.Phe17Phe), rs1598448876, gnomAD 17-58692694-C-T, AlphaMissense 0.67, MetaLR 0.03
- P18A (p.Pro18Ala), 1000Genomes rs547142453, ExAC rs547142453, gnomAD rs547142453, Likely benign, Hereditary cancer-predisposing syndrome
- P18L (p.Pro18Leu), rs754498936, ClinGen CA8677132, ClinVar RCV000566801, ClinVar RCV000648267, REVEL 0.27, AlphaMissense 0.28, Conflicting interpretations, Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- P18Q (p.Pro18Gln), rs754498936, ClinGen CA400336696, ClinVar RCV002027397, ClinVar RCV003382815, AlphaMissense 0.28, MetaLR 0.28, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- P18R (p.Pro18Arg), rs754498936, ClinGen CA400336700, NCI-TCGA Cosmic COSV9954, cosmic curated COSV99543, AlphaMissense 0.28, MetaLR 0.28, Uncertain significance, Fanconi anemia complementation group O
- P18S (p.Pro18Ser), rs547142453, ClinGen CA8677131, cosmic curated COSV53617, ClinVar RCV000215646, REVEL 0.21, CADD 24.00, Conflicting interpretations, not provided; not specified; Childhood neoplasm
- P18T (p.Pro18Thr), 1000Genomes rs547142453, ExAC rs547142453, gnomAD rs547142453, Uncertain significance
- L19C (p.Leu19Cys), rs2509261130, ClinGen CA2580094324, ClinVar RCV003030415, Pathogenic
- L19M (p.Leu19Met), rs1064796141, ClinGen CA16620487, ClinVar RCV000477979, Ensembl rs1064796141, AlphaMissense 0.23, MetaLR 0.26, Uncertain significance, not provided
- L19P (p.Leu19Pro), rs1598448973, ClinGen CA400336724, ClinVar RCV000811973, ClinVar RCV001024433, AlphaMissense 0.78, MetaLR 0.36, Uncertain significance, Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- L19Q (p.Leu19Gln), rs1598448973, ClinGen CA400336719, ClinVar RCV003056406, TOPMed rs1598448973, AlphaMissense 0.78, MetaLR 0.36, Uncertain significance, Fanconi anemia complementation group O
- L19V (p.Leu19Val), Ensembl rs1064796141, Uncertain significance, Fanconi anemia complementation group O
- S20A (p.Ser20Ala), rs2143675675, ClinGen CA400336746, ClinVar RCV002355706, Ensembl rs2143675675, AlphaMissense 0.08, MetaLR 0.05, Likely benign, Hereditary cancer-predisposing syndrome
- S20C (p.Ser20Cys), rs786203944, ClinGen CA198382, ClinVar RCV000167462, ClinVar RCV000704412, AlphaMissense 0.26, MetaLR 0.23, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- S20F (p.Ser20Phe), rs786203944, ClinGen CA400336751, ClinVar RCV000648243, ClinVar RCV002358853, REVEL 0.16, AlphaMissense 0.26, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; Fanconi anemia complement
- S20P (p.Ser20Pro), Ensembl rs2143675675, Likely benign
- S20T (p.Ser20Thr), Ensembl rs2143675675, Likely benign
- S20Y (p.Ser20Tyr), rs786203944, ClinGen CA400336749, ClinVar RCV001944656, ClinVar RCV004946785, AlphaMissense 0.26, MetaLR 0.23, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- S20S (p.Ser20Ser), rs565398047, gnomAD 17-58692703-T-G, CADD 9.23
- P21A (p.Pro21Ala), rs752608224, ClinGen CA8677134, NCI-TCGA Cosmic COSV5361, REVEL 0.09, AlphaMissense 0.18, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- P21L (p.Pro21Leu), rs587782511, ClinGen CA168555, ClinVar RCV000131660, ClinVar RCV000701475, REVEL 0.20, CADD 25.80, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia complement
- P21Q (p.Pro21Gln), gnomAD rs587782511, Uncertain significance
- P21R (p.Pro21Arg), gnomAD rs587782511, Uncertain significance
- P21S (p.Pro21Ser), rs752608224, ClinGen CA337583, NCI-TCGA Cosmic COSV5361, cosmic curated COSV53611, REVEL 0.13, AlphaMissense 0.18, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia complement
- P21T (p.Pro21Thr), rs752608224, NCI-TCGA Cosmic COSV5361, cosmic curated COSV53612, AlphaMissense 0.18, MetaLR 0.09, Uncertain significance, Fanconi anemia complementation group O
- P21P (p.Pro21Pro), rs770111989, gnomAD 17-58692706-A-C, CADD 5.75
- A22E (p.Ala22Glu), rs2143676047, ClinGen CA400336836, ClinVar RCV002375827, ClinVar RCV005254074, REVEL 0.04, AlphaMissense 0.11, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided
- A22G (p.Ala22Gly), rs2143676047, ClinGen CA400336837, ClinVar RCV003507522, Ensembl rs2143676047, AlphaMissense 0.11, MetaLR 0.07, Uncertain significance, Fanconi anemia complementation group O
- A22P (p.Ala22Pro), Ensembl rs2143675967
- A22T (p.Ala22Thr), Ensembl rs2143675967
- A22V (p.Ala22Val), rs2143676047, ClinGen CA400336839, ClinVar RCV001779185, ClinVar RCV002377665, AlphaMissense 0.11, MetaLR 0.07, Uncertain significance, Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- A22A (p.Ala22Ala), rs876660695, gnomAD 17-58692709-G-A, CADD 9.13
- V23A (p.Val23Ala), rs2047807604, ClinGen CA400336863, ClinVar RCV003618528, Ensembl rs2047807604, AlphaMissense 0.22, MetaLR 0.13, Uncertain significance, Fanconi anemia complementation group O
- V23E (p.Val23Glu), Ensembl rs2047807604, Uncertain significance
- V23G (p.Val23Gly), rs2047807604, ClinGen CA400336883, ClinVar RCV001030583, Ensembl rs2047807604, AlphaMissense 0.22, MetaLR 0.13, Uncertain significance, Hereditary breast ovarian cancer syndrome
- V23L (p.Val23Leu), rs1386696811, ClinGen CA400336845, ClinVar RCV004522584, ClinGen CA400336854, AlphaMissense 0.15, MetaLR 0.06, Benign, Hereditary cancer-predisposing syndrome
- V23M (p.Val23Met), rs1386696811, ClinGen CA400336857, ClinVar RCV001878707, gnomAD rs1386696811, REVEL 0.13, AlphaMissense 0.15, Uncertain significance, Fanconi anemia complementation group O
- V23V (p.Val23Val), rs876659581, gnomAD 17-58692712-G-A, CADD 12.80
- R24G (p.Arg24Gly), rs878855180, ClinGen CA400336901, ClinVar RCV001186349, ClinVar RCV001876182, REVEL 0.24, AlphaMissense 0.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- R24L (p.Arg24Leu), rs777554369, ClinGen CA16620488, NCI-TCGA Cosmic COSV9954, cosmic curated COSV99542, REVEL 0.24, CADD 25.20, Uncertain significance, not provided; Fanconi anemia complementation group O
- R24Q (p.Arg24Gln), rs777554369, ClinGen CA8677136, ClinVar RCV000220751, ClinVar RCV000529013, REVEL 0.19, CADD 28.80, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Inherited breast cancer a
- R24W (p.Arg24Trp), rs878855180, ClinGen CA10583600, ClinVar RCV000228353, ClinVar RCV003298307, AlphaMissense 0.30, MetaLR 0.22, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- R24R (p.Arg24Arg), rs749150256, gnomAD 17-58692715-G-A, CADD 6.97
- V25A (p.Val25Ala), rs2047809263, ClinGen CA400336994, ClinVar RCV001313808, ClinVar RCV002395670, REVEL 0.05, CADD 16.30, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- V25E (p.Val25Glu), Ensembl rs2047809263, Uncertain significance
- V25L (p.Val25Leu), rs757116652, ClinGen CA400336967, ClinVar RCV001036725, ClinVar RCV001759937, AlphaMissense 0.23, MetaLR 0.14, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- V25M (p.Val25Met), rs757116652, ClinGen CA8677139, ClinVar RCV000572807, ClinVar RCV000590825, REVEL 0.10, AlphaMissense 0.23, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia complement
- V25C (p.Val25Cys), rs2047807048, gnomAD 17-58692706-A-AGC, CADD 23.10
- V25V (p.Val25Val), rs779332818, gnomAD 17-58692718-G-A, CADD 13.50
- K26* (p.Lys26Ter), TOPMed rs1233718307, gnomAD rs1233718307, Uncertain significance
- K26E (p.Lys26Glu), rs1233718307, ClinGen CA400337022, ClinVar RCV001225779, ClinVar RCV005262312, REVEL 0.24, CADD 27.70, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- K26M (p.Lys26Met), rs746026526, ClinGen CA8677141, cosmic curated COSV10587, ClinVar RCV000409148, REVEL 0.30, CADD 28.30, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not specified; Fanconi anemia complemen
- K26N (p.Lys26Asn), NCI-TCGA Cosmic COSV9954, cosmic curated COSV99541, TOPMed rs864622460, gnomAD rs864622460, Likely benign
- K26R (p.Lys26Arg), ExAC rs746026526, TOPMed rs746026526, gnomAD rs746026526, Uncertain significance, Fanconi anemia complementation group O
- K26T (p.Lys26Thr), ExAC rs746026526, TOPMed rs746026526, gnomAD rs746026526, REVEL 0.21, CADD 24.60, Uncertain significance, Fanconi anemia complementation group O
- K26K (p.Lys26Lys), rs864622460, gnomAD 17-58692721-G-A, CADD 11.80
- L27M (p.Leu27Met), TOPMed rs786201775, gnomAD rs786201775, Likely benign
- L27P (p.Leu27Pro), rs587781309, ClinGen CA163703, ClinVar RCV000129034, ClinVar RCV000552582, REVEL 0.71, CADD 31.00, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Hereditary breast ovarian cancer syndro
- L27V (p.Leu27Val), TOPMed rs786201775, gnomAD rs786201775, REVEL 0.44, CADD 22.50, Likely benign
- L27L (p.Leu27Leu), rs786201775, gnomAD 17-58692722-C-T, CADD 10.50
- V28E (p.Val28Glu), Ensembl rs2143677389
- V28G (p.Val28Gly), Ensembl rs2143677389
- V28L (p.Val28Leu), rs1060502587, ClinGen CA400337095, ClinVar RCV002430344, ClinGen CA400337090, REVEL 0.05, CADD 22.20, Likely benign, Hereditary cancer-predisposing syndrome
- V28M (p.Val28Met), rs1060502587, ClinGen CA16615733, ClinVar RCV000460942, ClinVar RCV002429520, REVEL 0.06, CADD 24.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- S29A (p.Ser29Ala), Ensembl rs2143677521
- S29C (p.Ser29Cys), gnomAD rs876659683, Likely benign, Hereditary cancer-predisposing syndrome
- S29F (p.Ser29Phe), rs876659683, ClinGen CA10580722, ClinVar RCV000223596, ClinVar RCV000586089, REVEL 0.11, CADD 23.40, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complement
- S29T (p.Ser29Thr), Ensembl rs2143677521, Uncertain significance, Hereditary cancer-predisposing syndrome
- S29Y (p.Ser29Tyr), gnomAD rs876659683, Uncertain significance
- S29S (p.Ser29Ser), rs786203249, gnomAD 17-58692730-T-C, CADD 12.80
- A30E (p.Ala30Glu), rs1000113630, ClinGen CA400337141, ClinVar RCV001779187, TOPMed rs1000113630, AlphaMissense 0.44, MetaLR 0.24, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 3
- A30G (p.Ala30Gly), TOPMed rs1000113630, Uncertain significance
- A30P (p.Ala30Pro), rs1331134740, ClinGen CA400337137, ClinVar RCV001319449, ClinVar RCV004034970, AlphaMissense 0.92, MetaLR 0.29, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- A30S (p.Ala30Ser), rs1331134740, ClinGen CA400337138, ClinVar RCV000581168, ClinVar RCV000692461, REVEL 0.15, AlphaMissense 0.92, Conflicting interpretations, Fanconi anemia complementation group O; Breast-ovarian cancer, familial, suscept
- A30V (p.Ala30Val), rs1000113630, ClinGen CA292047058, ClinVar RCV000574008, ClinVar RCV000705597, REVEL 0.20, AlphaMissense 0.44, Conflicting interpretations, Familial ovarian cancer; Hereditary cancer-predisposing syndrome; not provided
- A30A (p.Ala30Ala), rs115414895, gnomAD 17-58692733-G-C, CADD 9.47
- G31A (p.Gly31Ala), rs587781441, ClinGen CA400337211, ClinVar RCV003873953, gnomAD rs587781441, REVEL 0.57, CADD 28.60, Uncertain significance, Fanconi anemia complementation group O
- G31E (p.Gly31Glu), rs587781441, ClinGen CA164261, ClinVar RCV000129353, ClinVar RCV001849920, REVEL 0.74, CADD 29.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- G31R (p.Gly31Arg), ExAC rs747492326, gnomAD rs747492326, REVEL 0.69, CADD 32.00, Uncertain significance, Breast-ovarian cancer, familial, susceptibility to, 3
- G31V (p.Gly31Val), gnomAD rs587781441, Uncertain significance
- G31G (p.Gly31Gly), rs769255656, gnomAD 17-58692736-G-A, CADD 10.90
Public RAD51C analysis runs
- RAD51C analysis run — RAD51C (1,846 variants) — completed 2026-08-18