FANCC (Fanconi anemia group C protein) variants and mutations
FANCC (also known as Fanconi anemia group C protein) is a human protein-coding gene encoding a fanconi anemia group C protein. It contributes to activation of the FANCD2-FANCI DNA-repair pathway after replication-blocking lesions. Biallelic loss-of-function variants cause Fanconi anemia group C, with chromosome instability, marrow failure, congenital abnormalities, and elevated cancer risk. This analysis covers 1,516 FANCC variants and mutations. Of these, 68% have computational variant effect predictions. Disease context includes Fanconi anemia complementation group C, Fanconi anemia, and hereditary neoplastic syndrome. Example FANCC variants include M1?, M1I, and M1T.
Variant analysis overview
- Gene: FANCC
- Protein: Fanconi anemia group C protein
- UniProt accession: Q00597
- Organism: Homo sapiens
- Variants analyzed: 1516
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,324 unspecified-consequence records; 3 stop lost; 90 synonymous variants; 62 missense variants; 18 frameshift variants; 3 in-frame insertions; 6 stop-gained variants; 1 splice-region variants; 9 in-frame deletions
- Prediction scores: 1,025 variants have prediction scores (68% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: Fanconi anemia complementation group C, Fanconi anemia, hereditary neoplastic syndrome, Inherited cancer-predisposing syndrome, acute myeloid leukemia, myelodysplastic syndrome, breast cancer, Bone marrow hypocellularity, leukemia, Fanconi anemia complementation group A, atrial fibrillation, ovarian cancer.
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 FANCC variants
Examples include M1?, M1I, M1T, A2T, A2V, Q3E, Q3H, Q3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV56668
- M1I (p.Met1Ile), rs1368374192, ClinGen CA374340546, ClinVar RCV000673122, ClinVar RCV001021633, MetaLR 0.37, MetaSVM -0.27, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia
- M1T (p.Met1Thr), rs2136102345, ClinGen CA374340550, ClinVar RCV001781081, ClinVar RCV005057617, MetaLR 0.40, MetaSVM -0.16, Conflicting interpretations, Fanconi anemia complementation group C; Fanconi anemia
- A2T (p.Ala2Thr), rs2136102300, ClinGen CA374340545, cosmic curated COSV56666, ClinVar RCV001355555, REVEL 0.35, CADD 24.70, Uncertain significance, Hereditary cancer-predisposing syndrome
- A2V (p.Ala2Val), Ensembl rs587780940, Benign/Likely benign, Hereditary cancer-predisposing syndrome; not specified; not provided
- Q3E (p.Gln3Glu), TOPMed rs1046396741, gnomAD rs1046396741, REVEL 0.03, CADD 15.30, Uncertain significance, Fanconi anemia complementation group C
- Q3H (p.Gln3His), rs769585639, ClinGen CA5137852, cosmic curated COSV56663, ClinVar RCV000518936, REVEL 0.04, CADD 17.70, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia; not provided
- Q3L (p.Gln3Leu), gnomAD rs1415268424, REVEL 0.22, CADD 23.50, Uncertain significance
- Q3P (p.Gln3Pro), rs1415268424, ClinGen CA374340538, ClinVar RCV000529824, ClinVar RCV001556604, REVEL 0.26, CADD 23.00, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; Fanconi anemia
- D4E (p.Asp4Glu), TOPMed rs1312670504, REVEL 0.06, CADD 0.69
- D4N (p.Asp4Asn), TOPMed rs1831182838
- D4Y (p.Asp4Tyr), NCI-TCGA Cosmic COSV5666, cosmic curated COSV56669, Variant assessed as somatic; moderate impact.
- S5* (p.Ser5Ter), cosmic curated COSV10000, Ensembl rs1831182314, Pathogenic
- S5L (p.Ser5Leu), rs1831182314, ClinGen CA374340521, ClinVar RCV001761864, ClinVar RCV002464487, REVEL 0.07, CADD 11.10, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group C
- V6A (p.Val6Ala), rs527289778, ClinGen CA5137850, ClinVar RCV000988228, 1000Genomes rs527289778, REVEL 0.04, AlphaMissense 0.07, Likely benign, Fanconi anemia complementation group A
- V6G (p.Val6Gly), rs527289778, ClinGen CA16618896, ClinVar RCV000485074, ClinVar RCV001834563, AlphaMissense 0.07, MetaLR 0.05, Uncertain significance, not provided
- V6I (p.Val6Ile), TOPMed rs1064795866, gnomAD rs1064795866, Uncertain significance
- V6L (p.Val6Leu), rs1064795866, ClinGen CA16618897, ClinVar RCV000481288, ClinVar RCV006386857, REVEL 0.05, CADD 11.60, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- D7A (p.Asp7Ala), cosmic curated COSV56664, gnomAD rs1218495715, REVEL 0.08, CADD 3.64
- D7E (p.Asp7Glu), rs2542863759, ClinGen CA374340511, ClinVar RCV003062709, REVEL 0.09, CADD 9.44, Uncertain significance, Fanconi anemia
- D7N (p.Asp7Asn), cosmic curated COSV10731
- D7Y (p.Asp7Tyr), NCI-TCGA Cosmic COSV5666, cosmic curated COSV56667, TOPMed rs1831181577, REVEL 0.14, CADD 16.30, Variant assessed as somatic; moderate impact.
- L8P (p.Leu8Pro), rs752249253, ClinGen CA5137849, ClinVar RCV001038389, ClinVar RCV002427489, AlphaMissense 0.14, MetaLR 0.10, Uncertain significance, not provided; Fanconi anemia; Hereditary cancer-predisposing syndrome
- L8V (p.Leu8Val), rs2542863725, ClinGen CA374340508, ClinVar RCV002457549, Uncertain significance, Hereditary cancer-predisposing syndrome
- S9C (p.Ser9Cys), ExAC rs767124692, gnomAD rs767124692, Uncertain significance
- S9F (p.Ser9Phe), rs767124692, ClinGen CA5137848, ClinVar RCV004520528, ExAC rs767124692, REVEL 0.05, AlphaMissense 0.09, Uncertain significance, Hereditary cancer-predisposing syndrome
- S9N (p.Ser9Asn), rs2542863610, ClinGen CA2580080713, ClinVar RCV003164896, ClinVar RCV006473752, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia
- S9T (p.Ser9Thr), rs2542863634, ClinGen CA374340504, ClinVar RCV002437134, Uncertain significance, Hereditary cancer-predisposing syndrome
- S9Y (p.Ser9Tyr), rs767124692, ClinGen CA374340501, ClinVar RCV002437384, AlphaMissense 0.09, MetaLR 0.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- C10G (p.Cys10Gly), rs147479204, ClinGen CA339141, cosmic curated COSV10461, ClinVar RCV000200177, REVEL 0.03, CADD 18.50, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not specified; not provided
- C10Y (p.Cys10Tyr), rs143152201, ClinGen CA287205, cosmic curated COSV56658, ClinVar RCV000233348, REVEL 0.06, CADD 17.40, Conflicting interpretations, Hereditary cancer; Hereditary cancer-predisposing syndrome; not specified
- Y12C (p.Tyr12Cys), rs762884109, ClinGen CA5137846, ClinVar RCV000482075, ClinVar RCV001276467, REVEL 0.05, CADD 16.50, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; Fanconi anemia
- Y12D (p.Tyr12Asp), rs766173332, ClinGen CA196922684, ClinVar RCV000630865, ClinVar RCV001020467, REVEL 0.28, CADD 25.50, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia
- Y12H (p.Tyr12His), ExAC rs766173332, gnomAD rs766173332, REVEL 0.27, CADD 25.40, Uncertain significance
- Y12N (p.Tyr12Asn), ExAC rs766173332, gnomAD rs766173332, REVEL 0.27, CADD 25.50, Uncertain significance, Fanconi anemia complementation group C
- Q13* (p.Gln13Ter), rs121917784, ClinGen CA287210, ClinVar RCV000012826, ClinVar RCV000115351, CADD 35.00, Pathogenic
- Q13H (p.Gln13His), Ensembl rs2136101748
- Q13R (p.Gln13Arg), rs199968672, ClinGen CA5137845, ClinVar RCV000362819, ClinVar RCV002356504, REVEL 0.23, CADD 23.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group C
- F14C (p.Phe14Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- W15* (p.Trp15Ter), rs1831179586, ClinGen CA374340459, ClinVar RCV001993301, ClinVar RCV004043989, CADD 36.00, Pathogenic
- W15L (p.Trp15Leu), gnomAD rs1831179714
- W15S (p.Trp15Ser), gnomAD rs1831179714, REVEL 0.70, CADD 26.20, Uncertain significance, Fanconi anemia
- M16I (p.Met16Ile), Ensembl rs2136101654
- M16K (p.Met16Lys), cosmic curated COSV10517
- M16L (p.Met16Leu), rs1390412870, ClinGen CA374340454, ClinVar RCV000630906, ClinVar RCV003162794, REVEL 0.04, CADD 13.10, Conflicting interpretations, not provided; Fanconi anemia; Hereditary cancer-predisposing syndrome
- M16V (p.Met16Val), rs1390412870, ClinGen CA374340456, ClinVar RCV000707263, ClinVar RCV002469272, REVEL 0.08, CADD 19.90, Uncertain significance, not specified; Fanconi anemia; Hereditary cancer-predisposing syndrome
- Q17K (p.Gln17Lys), gnomAD rs1292311011, REVEL 0.04, CADD 13.60
- K18T (p.Lys18Thr), rs2136101612, ClinGen CA374340436, cosmic curated COSV10961, ClinVar RCV002021797, AlphaMissense 0.54, MetaLR 0.41, Uncertain significance, Fanconi anemia
- L19H (p.Leu19His), Ensembl rs2136101568
- L19V (p.Leu19Val), rs1186995756, ClinGen CA374340429, ClinVar RCV002344879, TOPMed rs1186995756, REVEL 0.05, CADD 13.20, Uncertain significance, Hereditary cancer-predisposing syndrome
- S20C (p.Ser20Cys), rs2542862518, ClinGen CA374340422, ClinVar RCV002357944, Uncertain significance, Hereditary cancer-predisposing syndrome
- S20T (p.Ser20Thr), ExAC rs775755472, gnomAD rs775755472, REVEL 0.24, CADD 22.30
- V21A (p.Val21Ala), rs746117016, ClinGen CA16618895, ClinVar RCV000483808, ClinVar RCV005831612, AlphaMissense 0.11, MetaLR 0.04, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- V21E (p.Val21Glu), ExAC rs746117016, gnomAD rs746117016, REVEL 0.10, AlphaMissense 0.11, Uncertain significance
- V21I (p.Val21Ile), rs772386467, ClinGen CA374340420, ClinVar RCV001025003, ExAC rs772386467, REVEL 0.03, CADD 1.43, Uncertain significance, Hereditary cancer-predisposing syndrome
- V21L (p.Val21Leu), rs772386467, ClinGen CA5137842, ClinVar RCV001025004, ClinVar RCV001276599, REVEL 0.04, CADD 1.27, Uncertain significance, Hereditary cancer-predisposing syndrome
- W22* (p.Trp22Ter), rs377294947, ClinGen CA274137, ClinVar RCV000169293, ClinVar RCV001390247, CADD 35.00, Pathogenic
- D23Y (p.Asp23Tyr), rs2542862230, ClinGen CA374340407, ClinVar RCV002369487, REVEL 0.22, CADD 23.40, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q24* (p.Gln24Ter), rs2136101386, ClinGen CA374340399, ClinVar RCV001615391, ClinVar RCV002368623, Pathogenic
- Q24P (p.Gln24Pro), TOPMed rs1831177809
- Q24R (p.Gln24Arg), TOPMed rs1831177809, REVEL 0.28, CADD 24.90
- A25G (p.Ala25Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- A25P (p.Ala25Pro), Ensembl rs2136101299
- A25T (p.Ala25Thr), Ensembl rs2136101299
- S26C (p.Ser26Cys), 1000Genomes rs1800361, ESP rs1800361, ExAC rs1800361, TOPMed rs1800361, Benign
- S26F (p.Ser26Phe), rs1800361, ClinGen CA159399, cosmic curated COSV10461, ClinVar RCV000120974, REVEL 0.23, CADD 25.10, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not specified; not provided
- S26T (p.Ser26Thr), rs1165230596, ClinGen CA374340387, ClinVar RCV001226683, ClinVar RCV003483798, REVEL 0.09, CADD 14.50, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia
- T27I (p.Thr27Ile), rs1489419613, ClinGen CA374340379, ClinVar RCV000702909, ClinVar RCV001027176, REVEL 0.14, AlphaMissense 0.11, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia
- T27S (p.Thr27Ser), rs1489419613, ClinGen CA374340377, ClinVar RCV001340915, ClinVar RCV006391924, AlphaMissense 0.11, MetaLR 0.08, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia
- T30S (p.Thr30Ser), rs778115754, ClinGen CA5137839, ClinVar RCV002376044, ExAC rs778115754, REVEL 0.03, CADD 10.70, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q31* (p.Gln31Ter), ExAC rs747616516, gnomAD rs747616516, CADD 36.00
- Q31R (p.Gln31Arg), rs2542861508, ClinGen CA374340353, ClinVar RCV002371512, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q32* (p.Gln32Ter), rs1831176210, ClinGen CA374340347, ClinVar RCV004520553, Ensembl rs1831176210, AlphaMissense 0.07, MetaLR 0.05, Pathogenic
- Q32K (p.Gln32Lys), rs1831176210, ClinGen CA374340349, ClinVar RCV003325713, Ensembl rs1831176210, AlphaMissense 0.07, MetaLR 0.05, Uncertain significance, not provided
- Q32R (p.Gln32Arg), rs2542861408, ClinGen CA374340346, ClinVar RCV004520554, Uncertain significance, Hereditary cancer-predisposing syndrome
- D33H (p.Asp33His), Ensembl rs2136101074, Uncertain significance, Hereditary cancer-predisposing syndrome
- D33V (p.Asp33Val), rs2542861322, ClinGen CA374340336, ClinVar RCV002387447, Uncertain significance, Hereditary cancer-predisposing syndrome
- T34I (p.Thr34Ile), Ensembl rs1831175762, Uncertain significance, Hereditary cancer-predisposing syndrome
- T34N (p.Thr34Asn), Ensembl rs1831175762, Uncertain significance
- T34P (p.Thr34Pro), rs2542861248, ClinGen CA374340332, ClinVar RCV002439518, Uncertain significance, Hereditary cancer-predisposing syndrome
- C35R (p.Cys35Arg), rs1588353540, ClinGen CA374340326, ClinVar RCV001009771, TOPMed rs1588353540, REVEL 0.71, CADD 26.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- C35S (p.Cys35Ser), rs143212932, ClinGen CA5137836, ClinVar RCV000568036, ClinVar RCV001202318, REVEL 0.45, CADD 23.40, Uncertain significance, Hereditary cancer-predisposing syndrome
- C35Y (p.Cys35Tyr), rs143212932, ClinGen CA374340324, ClinVar RCV001042157, 1000Genomes rs143212932, REVEL 0.59, CADD 25.00, Uncertain significance, Fanconi anemia
- L36F (p.Leu36Phe), cosmic curated COSV56658
- L36P (p.Leu36Pro), rs2542860984, ClinGen CA374340318, ClinVar RCV002417517, Uncertain significance, Hereditary cancer-predisposing syndrome
- L36V (p.Leu36Val), 1000Genomes rs544496341, ExAC rs544496341, gnomAD rs544496341, REVEL 0.12, CADD 15.70, Likely benign, Hereditary cancer-predisposing syndrome
- H37D (p.His37Asp), rs864622230, ClinGen CA349729, ClinVar RCV000205596, ClinVar RCV001017291, REVEL 0.47, CADD 24.10, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia
- H37P (p.His37Pro), rs1564794663, ClinGen CA374340313, ClinVar RCV000707475, ClinVar RCV002440556, REVEL 0.56, CADD 24.80, Uncertain significance, not provided; Fanconi anemia; Hereditary cancer-predisposing syndrome
- H37Q (p.His37Gln), rs751219956, ClinGen CA374340309, ClinVar RCV004520506, ClinVar RCV005100672, REVEL 0.41, CADD 22.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia
- H37Y (p.His37Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V38G (p.Val38Gly), rs2542860706, ClinGen CA374340306, ClinVar RCV002451943, ClinVar RCV005616392, Uncertain significance, Hereditary cancer-predisposing syndrome
- V38L (p.Val38Leu), rs778951584, ClinGen CA374340308, ClinVar RCV000527400, ClinVar RCV002323915, REVEL 0.09, CADD 8.80, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia
- V38M (p.Val38Met), rs778951584, ClinGen CA5137833, NCI-TCGA Cosmic COSV1000, NCI-TCGA Cosmic COSV5666, REVEL 0.06, CADD 18.80, Conflicting interpretations, Fanconi anemia; Hereditary cancer-predisposing syndrome; Fanconi anemia compleme
- A39P (p.Ala39Pro), cosmic curated COSV10586
- A39S (p.Ala39Ser), Ensembl rs2136100841, Uncertain significance
- A39T (p.Ala39Thr), rs2136100841, ClinGen CA374340303, ClinVar RCV002373300, Ensembl rs2136100841, AlphaMissense 0.08, MetaLR 0.04, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q40E (p.Gln40Glu), rs1588353456, ClinGen CA374340296, cosmic curated COSV10731, ClinVar RCV001010233, AlphaMissense 0.08, MetaLR 0.08, Likely benign, Hereditary cancer-predisposing syndrome
- Q40H (p.Gln40His), rs905858585, ClinGen CA196922572, ClinVar RCV001303767, ClinVar RCV002357104, AlphaMissense 0.16, MetaLR 0.09, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia
- Q40L (p.Gln40Leu), gnomAD rs1368894079, REVEL 0.11, AlphaMissense 0.11, Uncertain significance
- Q40P (p.Gln40Pro), rs1368894079, ClinGen CA374340294, ClinVar RCV001010256, gnomAD rs1368894079, AlphaMissense 0.11, MetaLR 0.08, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q40R (p.Gln40Arg), cosmic curated COSV56666, REVEL 0.08, CADD 7.56, Likely benign, Hereditary cancer-predisposing syndrome
- F41L (p.Phe41Leu), cosmic curated COSV56666
- F41S (p.Phe41Ser), cosmic curated COSV56663
- Q42* (p.Gln42Ter), rs758116389, ClinGen CA5137832, ClinVar RCV003145116, ClinVar RCV003635999, CADD 36.00, Pathogenic
- Q42R (p.Gln42Arg), rs2542860364, ClinGen CA374340280, ClinVar RCV002430198, Uncertain significance, Hereditary cancer-predisposing syndrome
- E43D (p.Glu43Asp), TOPMed rs1246204881, gnomAD rs1246204881, REVEL 0.28, CADD 20.60, Uncertain significance, Hereditary cancer-predisposing syndrome
- E43G (p.Glu43Gly), cosmic curated COSV56661, Uncertain significance, Fanconi anemia
- E43K (p.Glu43Lys), rs374836770, ClinGen CA299206, cosmic curated COSV56665, ClinVar RCV000160495, REVEL 0.07, CADD 20.20, Conflicting interpretations, Fanconi anemia complementation group A; Hereditary cancer-predisposing syndrome
- F44S (p.Phe44Ser), rs1588353402, ClinGen CA374340265, ClinVar RCV000813273, Ensembl rs1588353402, AlphaMissense 0.82, MetaLR 0.41, Uncertain significance, Fanconi anemia
- F44V (p.Phe44Val), gnomAD rs1831172988, REVEL 0.72, CADD 26.20
- L45R (p.Leu45Arg), rs2136100589, ClinGen CA374340257, ClinVar RCV001970758, Ensembl rs2136100589, AlphaMissense 0.67, MetaLR 0.41, Uncertain significance, Fanconi anemia
- R46G (p.Arg46Gly), cosmic curated COSV56666
- R46K (p.Arg46Lys), rs765058606, ClinGen CA5137830, ClinVar RCV004520512, ExAC rs765058606, AlphaMissense 0.09, MetaLR 0.09, Likely benign, Hereditary cancer-predisposing syndrome
- K47* (p.Lys47Ter), rs1831172189, ClinGen CA374340247, ClinVar RCV001063564, Ensembl rs1831172189, Pathogenic
- K47E (p.Lys47Glu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- K47N (p.Lys47Asn), rs2136100485, ClinGen CA374340242, ClinVar RCV002890746, REVEL 0.07, CADD 22.40, Uncertain significance, Fanconi anemia
- K47R (p.Lys47Arg), rs1588353368, ClinGen CA374340245, ClinVar RCV001011434, ClinVar RCV001832333, REVEL 0.03, CADD 18.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- K47T (p.Lys47Thr), rs1588353368, ClinGen CA374340246, ClinVar RCV001960384, ClinVar RCV002246607, REVEL 0.10, CADD 22.30, Uncertain significance, Fanconi anemia; Hereditary cancer-predisposing syndrome; not specified
- M48I (p.Met48Ile), Ensembl rs2136100434, Uncertain significance, Hereditary cancer-predisposing syndrome
- M48T (p.Met48Thr), rs1353498563, ClinGen CA374340237, NCI-TCGA Cosmic COSV1000, cosmic curated COSV10000, REVEL 0.12, CADD 21.20, Uncertain significance, Fanconi anemia complementation group C; Hereditary cancer-predisposing syndrome
- M48V (p.Met48Val), rs1831171942, ClinGen CA374340241, ClinVar RCV002392020, Ensembl rs1831171942, REVEL 0.04, CADD 14.40, Uncertain significance, Hereditary cancer-predisposing syndrome
- Y49C (p.Tyr49Cys), rs761845692, ClinGen CA5137829, ClinVar RCV001242908, ClinVar RCV002393630, REVEL 0.35, AlphaMissense 0.22, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia
- Y49S (p.Tyr49Ser), rs761845692, ClinGen CA374340229, ClinVar RCV004520515, AlphaMissense 0.22, MetaLR 0.31, Uncertain significance, Hereditary cancer-predisposing syndrome
- E50K (p.Glu50Lys), Ensembl rs2136100400, Uncertain significance, Hereditary cancer-predisposing syndrome
- A51D (p.Ala51Asp), rs1831171292, ClinGen CA374340214, ClinVar RCV002400843, ClinVar RCV003235719, AlphaMissense 0.09, MetaLR 0.06, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- A51V (p.Ala51Val), TOPMed rs1831171292, Uncertain significance, Hereditary cancer-predisposing syndrome
- L52F (p.Leu52Phe), rs1060502518, ClinGen CA16612741, ClinVar RCV000469467, ClinVar RCV002402274, AlphaMissense 0.25, MetaLR 0.34, Uncertain significance, Fanconi anemia; Hereditary cancer-predisposing syndrome
- L52M (p.Leu52Met), NCI-TCGA Cosmic COSV1000, cosmic curated COSV10000, Variant assessed as somatic; moderate impact.
- E54D (p.Glu54Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E54K (p.Glu54Lys), rs1564794487, ClinGen CA374340196, NCI-TCGA Cosmic COSV5665, ClinVar RCV000706384, REVEL 0.18, CADD 23.50, Uncertain significance, Fanconi anemia; Hereditary cancer-predisposing syndrome
- E54Q (p.Glu54Gln), NCI-TCGA Cosmic COSV5665, cosmic curated COSV56659, Variant assessed as somatic; moderate impact.
- M55I (p.Met55Ile), gnomAD rs1376922387, REVEL 0.19, CADD 28.40, Uncertain significance, Fanconi anemia complementation group C
- M55T (p.Met55Thr), rs1060502513, ClinGen CA16612636, ClinVar RCV000462577, Ensembl rs1060502513, AlphaMissense 0.24, MetaLR 0.17, Uncertain significance, Fanconi anemia
- M55V (p.Met55Val), rs2136100336, ClinGen CA374340188, ClinVar RCV002403519, Ensembl rs2136100336, REVEL 0.19, CADD 22.70, Uncertain significance, Hereditary cancer-predisposing syndrome
- D56A (p.Asp56Ala), rs759662786, ClinGen CA374340168, ClinVar RCV003301943, AlphaMissense 0.26, MetaLR 0.25, Uncertain significance, Hereditary cancer-predisposing syndrome
- D56G (p.Asp56Gly), rs759662786, ClinGen CA374340167, ClinVar RCV002414526, ClinVar RCV004774684, REVEL 0.15, AlphaMissense 0.26, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia complement
- D56V (p.Asp56Val), rs759662786, ClinGen CA5137810, ClinVar RCV002002929, ClinVar RCV004946984, REVEL 0.36, AlphaMissense 0.26, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia
- D56Y (p.Asp56Tyr), rs2542844552, ClinGen CA374340169, ClinVar RCV003181995, ClinVar RCV003523149, Uncertain significance, Fanconi anemia; Hereditary cancer-predisposing syndrome
- S57A (p.Ser57Ala), rs1356447246, ClinGen CA374340162, ClinVar RCV002598343, ClinVar RCV004617055, AlphaMissense 0.10, MetaLR 0.12, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia
- S57C (p.Ser57Cys), cosmic curated COSV56668, Uncertain significance, Hereditary cancer-predisposing syndrome
- S57P (p.Ser57Pro), rs1356447246, ClinGen CA374340163, ClinVar RCV002406294, gnomAD rs1356447246, REVEL 0.08, AlphaMissense 0.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- N58D (p.Asn58Asp), rs2542844370, ClinGen CA374340157, ClinVar RCV002414863, Uncertain significance, Hereditary cancer-predisposing syndrome
- N58S (p.Asn58Ser), rs1831061339, ClinGen CA374340154, ClinVar RCV001212713, Ensembl rs1831061339, AlphaMissense 0.07, MetaLR 0.05, Uncertain significance, Fanconi anemia
- N58Y (p.Asn58Tyr), cosmic curated COSV56667
- T59A (p.Thr59Ala), NCI-TCGA Cosmic COSV5666, cosmic curated COSV56662, Uncertain significance, Hereditary cancer-predisposing syndrome
- T59I (p.Thr59Ile), rs149566909, ClinGen CA5137809, ClinVar RCV001013091, ClinVar RCV001213662, REVEL 0.05, CADD 16.70, Conflicting interpretations, Fanconi anemia complementation group C; not provided; Hereditary cancer-predispo
- V60I (p.Val60Ile), rs138629441, ClinGen CA287202, cosmic curated COSV10461, ClinVar RCV000115347, REVEL 0.10, CADD 0.01, Conflicting interpretations, Hereditary cancer; Hereditary cancer-predisposing syndrome; not specified
- E62K (p.Glu62Lys), cosmic curated COSV10461, NCI-TCGA Cosmic COSV5666, Variant assessed as somatic; moderate impact.
- E62Q (p.Glu62Gln), cosmic curated COSV56667
- R63I (p.Arg63Ile), rs1588350373, ClinGen CA374340117, ClinVar RCV001030470, Ensembl rs1588350373, AlphaMissense 0.10, MetaLR 0.14, Uncertain significance, Hereditary breast ovarian cancer syndrome
- R63S (p.Arg63Ser), rs773388565, ClinGen CA374340116, ClinVar RCV004520524, ClinGen CA196921454, REVEL 0.13, CADD 23.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- R63T (p.Arg63Thr), rs1588350373, ClinGen CA374340118, ClinVar RCV001013465, ClinVar RCV001320346, REVEL 0.19, AlphaMissense 0.10, Uncertain significance, Hereditary cancer-predisposing syndrome; Fanconi anemia
- F64C (p.Phe64Cys), rs375921240, ClinGen CA299209, ClinVar RCV000160496, ClinVar RCV000557807, REVEL 0.44, AlphaMissense 0.54, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia
- F64L (p.Phe64Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- F64Y (p.Phe64Tyr), rs375921240, ClinGen CA374340112, ClinVar RCV002410680, AlphaMissense 0.54, MetaLR 0.37, Uncertain significance, Hereditary cancer-predisposing syndrome
- P65L (p.Pro65Leu), cosmic curated COSV56658, Uncertain significance, Hereditary cancer-predisposing syndrome
- P65S (p.Pro65Ser), Ensembl rs1187832700, Uncertain significance, not provided
- T66I (p.Thr66Ile), rs762234072, ClinGen CA5137806, ClinVar RCV001300254, ExAC rs762234072, REVEL 0.05, CADD 19.10, Uncertain significance, Fanconi anemia
- T66R (p.Thr66Arg), ExAC rs762234072, gnomAD rs762234072, REVEL 0.20, CADD 22.40, Uncertain significance
- I67V (p.Ile67Val), rs2542843617, ClinGen CA374340096, ClinVar RCV002417061, REVEL 0.08, CADD 16.70, Uncertain significance, Hereditary cancer-predisposing syndrome
- G68D (p.Gly68Asp), ExAC rs769200374, gnomAD rs769200374, REVEL 0.24, AlphaMissense 0.17
- G68R (p.Gly68Arg), rs777111154, ClinGen CA350586, ClinVar RCV000206563, ClinVar RCV001014138, REVEL 0.28, AlphaMissense 0.22, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia
- G68S (p.Gly68Ser), rs777111154, ClinGen CA374340090, ClinVar RCV000709094, ClinVar RCV004723125, AlphaMissense 0.22, MetaLR 0.16, Uncertain significance, Fanconi anemia complementation group C; not provided
- G68V (p.Gly68Val), rs769200374, ClinGen CA374340087, ClinVar RCV003368126, AlphaMissense 0.17, MetaLR 0.17, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q69* (p.Gln69Ter), cosmic curated COSV56666
- L70P (p.Leu70Pro), rs150174412, ClinGen CA374340076, ClinVar RCV004520526, ClinVar RCV006259568, AlphaMissense 0.69, MetaLR 0.35, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome
- L70Q (p.Leu70Gln), rs150174412, ClinGen CA5137804, ClinVar RCV001070979, ClinVar RCV001759849, REVEL 0.55, AlphaMissense 0.69, Uncertain significance, not provided; Fanconi anemia; Fanconi anemia complementation group C
- L70R (p.Leu70Arg), rs150174412, ClinGen CA5137803, ClinVar RCV002424182, ESP rs150174412, REVEL 0.55, AlphaMissense 0.69, Uncertain significance, Hereditary cancer-predisposing syndrome
- L71* (p.Leu71Ter), rs2542843255, ClinGen CA374340073, ClinVar RCV003301938, Pathogenic
- L71F (p.Leu71Phe), rs2136091002, ClinGen CA374340069, ClinVar RCV001354638, ClinVar RCV001871922, AlphaMissense 0.26, MetaLR 0.35, Uncertain significance, Fanconi anemia
- L71M (p.Leu71Met), gnomAD rs1159035875, REVEL 0.43, CADD 24.70, Likely benign
- A72S (p.Ala72Ser), rs567465885, ClinGen CA374340067, ClinVar RCV001761471, ClinVar RCV002540462, REVEL 0.09, CADD 22.60, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia
- A72T (p.Ala72Thr), rs567465885, ClinGen CA159402, ClinVar RCV000120975, ClinVar RCV000668393, REVEL 0.07, CADD 20.70, Uncertain significance, Hereditary cancer-predisposing syndrome
- K73R (p.Lys73Arg), cosmic curated COSV56667
- A74G (p.Ala74Gly), ExAC rs745549619, gnomAD rs745549619, REVEL 0.10, CADD 18.30
- A74S (p.Ala74Ser), rs2542843102, ClinGen CA374340054, ClinVar RCV003181998, Uncertain significance, Hereditary cancer-predisposing syndrome
- C75* (p.Cys75Ter), rs2542842989, ClinGen CA374340044, ClinVar RCV002306898, Likely pathogenic
- C75Y (p.Cys75Tyr), TOPMed rs1831056324, gnomAD rs1831056324, REVEL 0.64, CADD 24.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- W76* (p.Trp76Ter), rs1189888124, ClinGen CA374340038, ClinVar RCV002035479, ClinVar RCV002442941, Pathogenic
- W76C (p.Trp76Cys), rs876661132, ClinGen CA10577381, ClinVar RCV000221761, ClinVar RCV001833231, AlphaMissense 0.28, MetaLR 0.37, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia
Public FANCC analysis runs
- FANCC analysis run — FANCC (1,516 variants) — completed 2026-08-18