CDC73 (Parafibromin) variants and mutations
CDC73 (also known as Parafibromin) is a human protein-coding gene encoding a parafibromin protein. Within the PAF1 transcriptional complex, it helps regulate transcription, chromatin regulation, and cell proliferation. Germline loss-of-function variants cause hyperparathyroidism-jaw tumor syndrome and increase the risk of parathyroid carcinoma. This analysis covers 1,238 CDC73 variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes parathyroid gland carcinoma, hyperparathyroidism 2 with jaw tumors, and familial isolated hyperparathyroidism. Example CDC73 variants include M1I, M1T, and M1V.
Variant analysis overview
- Gene: CDC73
- Protein: Parafibromin
- UniProt accession: Q6P1J9
- Organism: Homo sapiens
- Variants analyzed: 1238
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 1,119 unspecified-consequence records; 57 synonymous variants; 51 missense variants; 4 splice-region variants; 1 stop-gained variants; 4 frameshift variants; 3 substitution
- Prediction scores: 909 variants have prediction scores (73% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: parathyroid gland carcinoma, hyperparathyroidism 2 with jaw tumors, familial isolated hyperparathyroidism, Hyperparathyroidism-jaw tumor syndrome, hyperparathyroidism, hereditary neoplastic syndrome, Inherited cancer-predisposing syndrome, malignant endocrine neoplasm, familial primary hyperparathyroidism, parathyroid gland adenoma, ossifying fibroma of the jaw, hypertensive disorder.
Protein structure and variant hotspots
- Protein features: 2 post-translational modification sites.
- PTM context: 5 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 CDC73 variants
Examples include M1I, M1T, M1V, A2G, A2S, A2V, A2A, D3E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs28942098, ClinGen CA343972728, ClinVar RCV000579066, ClinGen CA252641, MetaLR 0.82, MetaSVM 0.92, Pathogenic, not provided
- M1T (p.Met1Thr), rs1553277483, ClinGen CA343972725, ClinVar RCV000623617, MetaLR 0.84, MetaSVM 0.88, Pathogenic, Inborn genetic diseases
- M1V (p.Met1Val), rs1558276054, ClinGen CA343972722, ClinVar RCV000706820, MetaLR 0.84, MetaSVM 0.87, Pathogenic, Parathyroid carcinoma
- A2G (p.Ala2Gly), Ensembl rs2103111530
- A2S (p.Ala2Ser), UniProt VAR 064927, Uncertain significance
- A2V (p.Ala2Val), cosmic curated COSV10943, Ensembl rs2103111530, MetaLR 0.68, MetaSVM 0.44
- A2A (p.Ala2Ala), rs1477227787, gnomAD 1-193122206-G-A, CADD 16.50
- D3E (p.Asp3Glu), ExAC rs746910026, gnomAD rs746910026, REVEL 0.84, MetaLR 0.91, Likely benign
- D3G (p.Asp3Gly), rs1675462949, ClinGen CA343972739, ClinVar RCV001060938, ClinVar RCV002374954, AlphaMissense 0.99, MetaLR 0.91, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Parathyroid carcinoma
- D3V (p.Asp3Val), TOPMed rs1675462949, MetaLR 0.91, MetaSVM 1.05, Uncertain significance
- V4E (p.Val4Glu), NCI-TCGA TCGA novel, Ensembl rs1572139677, Variant assessed as somatic; moderate impact.
- V4G (p.Val4Gly), Ensembl rs1572139677
- V4L (p.Val4Leu), rs1675463101, ClinGen CA343972743, ClinVar RCV001063458, Ensembl rs1675463101, REVEL 0.52, MetaLR 0.41, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- V4M (p.Val4Met), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10081, MetaLR 0.54, MetaSVM 0.15, Variant assessed as somatic; moderate impact.
- L5F (p.Leu5Phe), rs1296841626, ClinGen CA343972750, ClinVar RCV001924431, ClinVar RCV006367681, AlphaMissense 0.98, MetaLR 0.92, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- L5H (p.Leu5His), Ensembl rs2103111567, MetaLR 0.93, MetaSVM 1.07
- L5I (p.Leu5Ile), rs1296841626, ClinGen CA343972748, ClinVar RCV002389233, REVEL 0.83, AlphaMissense 0.98, Uncertain significance, Hereditary cancer-predisposing syndrome
- L5L (p.Leu5Leu), rs2103111572, gnomAD 1-193122215-T-G, CADD 14.00
- S6C (p.Ser6Cys), ExAC rs770544416, gnomAD rs770544416, Uncertain significance
- S6G (p.Ser6Gly), rs770544416, ClinGen CA1303239, ClinVar RCV002908835, ClinVar RCV005794417, REVEL 0.64, MetaLR 0.65, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- S6I (p.Ser6Ile), rs775940851, ClinGen CA343972756, ClinVar RCV002637659, ClinVar RCV003162051, AlphaMissense 0.84, MetaLR 0.67, Uncertain significance, Parathyroid carcinoma; Hereditary cancer-predisposing syndrome
- S6N (p.Ser6Asn), rs775940851, ClinGen CA1303240, ClinVar RCV002407885, ExAC rs775940851, REVEL 0.59, AlphaMissense 0.84, Uncertain significance, Hereditary cancer-predisposing syndrome
- S6R (p.Ser6Arg), rs564726032, ClinGen CA343972758, ClinVar RCV003607812, 1000Genomes rs564726032, AlphaMissense 0.99, MetaLR 0.64, Uncertain significance, Parathyroid carcinoma
- S6S (p.Ser6Ser), rs564726032, gnomAD 1-193122218-C-T, AlphaMissense 0.99, MetaLR 0.64
- V7A (p.Val7Ala), gnomAD rs1233590026, REVEL 0.42, MetaLR 0.39
- V7G (p.Val7Gly), gnomAD rs1233590026
- V7L (p.Val7Leu), Ensembl rs2103111582, MetaLR 0.20, MetaSVM -0.78, Uncertain significance, Hereditary cancer-predisposing syndrome
- V7V (p.Val7Val), rs769522707, gnomAD 1-193122221-C-T, CADD 15.20
- L8P (p.Leu8Pro), NCI-TCGA Cosmic COSV6646, cosmic curated COSV66467, Variant assessed as somatic; moderate impact.
- L8Q (p.Leu8Gln), Ensembl rs2103111598, MetaLR 0.90, MetaSVM 1.01
- L8V (p.Leu8Val), gnomAD 1-193122222-C-G, REVEL 0.71, MetaLR 0.76
- L8L (p.Leu8Leu), rs1366872937, gnomAD 1-193122222-C-T, CADD 14.60
- R9* (p.Arg9Ter), rs121434262, ClinGen CA252644, cosmic curated COSV66467, ClinVar RCV000003425, Pathogenic
- R9P (p.Arg9Pro), rs2103111603, ClinGen CA343972773, ClinVar RCV002304087, ClinVar RCV002427769, AlphaMissense 1.00, MetaLR 0.83, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- R9Q (p.Arg9Gln), rs2103111603, ClinGen CA343972772, cosmic curated COSV10970, ClinVar RCV001901553, REVEL 0.80, AlphaMissense 1.00, Uncertain significance, Parathyroid carcinoma
- R9R (p.Arg9Arg), rs121434262, gnomAD 1-193122225-C-A, CADD 16.10
- Q10* (p.Gln10Ter), rs2103111608, ClinGen CA343972777, ClinVar RCV003501117, AlphaMissense 0.25, MetaLR 0.44, Pathogenic
- Q10E (p.Gln10Glu), Ensembl rs2103111608
- Q10L (p.Gln10Leu), rs2103111611, ClinGen CA343972780, ClinVar RCV002256988, ClinVar RCV003607431, AlphaMissense 0.32, MetaLR 0.48, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Q10R (p.Gln10Arg), rs2103111611, ClinGen CA343972779, ClinVar RCV003500459, ClinVar RCV006368371, REVEL 0.53, AlphaMissense 0.32, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Q10Q (p.Gln10Gln), rs764533991, gnomAD 1-193122230-G-A, CADD 14.40
- Y11D (p.Tyr11Asp), Ensembl rs2103111616, Uncertain significance
- Y11H (p.Tyr11His), rs2103111616, ClinGen CA343972785, ClinVar RCV002322968, NCI-TCGA TCGA novel, AlphaMissense 0.96, MetaLR 0.78, Uncertain significance, Hereditary cancer-predisposing syndrome
- Y11Y (p.Tyr11Tyr), rs150951102, gnomAD 1-193122233-C-T, CADD 14.50
- N12D (p.Asn12Asp), rs1675464114, ClinGen CA343972792, ClinVar RCV003608242, AlphaMissense 0.33, MetaLR 0.51, Uncertain significance, Parathyroid carcinoma
- N12H (p.Asn12His), rs1675464114, ClinGen CA343972791, ClinVar RCV003608447, ClinVar RCV004371918, AlphaMissense 0.33, MetaLR 0.51, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- N12R (p.Asn12Arg), rs2527280897, ClinGen CA2586967898, ClinVar RCV003501680, Pathogenic
- N12S (p.Asn12Ser), gnomAD 1-193122235-A-G, REVEL 0.43, MetaLR 0.48
- N12N (p.Asn12Asn), rs1238773294, gnomAD 1-193122236-C-T, CADD 15.40
- I13F (p.Ile13Phe), rs762220544, ClinGen CA343972799, ClinVar RCV003013712, ClinVar RCV005323285, AlphaMissense 0.09, MetaLR 0.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- I13M (p.Ile13Met), rs2103111637, ClinGen CA343972804, ClinVar RCV002908097, REVEL 0.24, MetaLR 0.43, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- I13N (p.Ile13Asn), Ensembl rs2103111632, MetaLR 0.52, MetaSVM 0.01
- I13V (p.Ile13Val), rs762220544, ClinGen CA1303247, ClinVar RCV001315716, ClinVar RCV005306394, REVEL 0.27, AlphaMissense 0.09, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- I13T (p.Ile13Thr), gnomAD 1-193122238-T-C, REVEL 0.30, MetaLR 0.40
- Q14E (p.Gln14Glu), gnomAD rs1459610351, REVEL 0.23, MetaLR 0.28
- Q14P (p.Gln14Pro), rs767638609, ClinGen CA343972808, ClinVar RCV002327844, ClinVar RCV003094581, AlphaMissense 0.40, MetaLR 0.25, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Q14R (p.Gln14Arg), rs767638609, ClinGen CA1303248, ClinVar RCV001039668, ClinVar RCV002327267, REVEL 0.27, AlphaMissense 0.40, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Q14Q (p.Gln14Gln), gnomAD 1-193122242-G-A, CADD 15.00
- K15* (p.Lys15Ter), rs2527280954, ClinGen CA343972812, ClinVar RCV003500182, Pathogenic
- K16E (p.Lys16Glu), rs1675464429, ClinGen CA343972821, ClinVar RCV001307681, Ensembl rs1675464429, AlphaMissense 0.90, MetaLR 0.50, Uncertain significance, Parathyroid carcinoma
- K16N (p.Lys16Asn), rs2103111654, ClinGen CA343972827, ClinVar RCV002298356, Uncertain significance, Parathyroid carcinoma
- K16R (p.Lys16Arg), rs2527280969, ClinGen CA343972824, ClinVar RCV002337860, ClinVar RCV003464465, REVEL 0.40, MetaLR 0.51, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma; Hyperparathyroid
- E17A (p.Glu17Ala), ExAC rs750412567, MetaLR 0.48, MetaSVM -0.34
- E17G (p.Glu17Gly), gnomAD 1-193122250-A-G, REVEL 0.45, MetaLR 0.53
- I18N (p.Ile18Asn), Ensembl rs2103111665
- I18T (p.Ile18Thr), rs2103111665, ClinGen CA343972839, ClinVar RCV003607962, REVEL 0.70, MetaLR 0.66, Uncertain significance, Parathyroid carcinoma
- I18V (p.Ile18Val), rs2527281003, ClinGen CA343972836, ClinVar RCV002880310, Uncertain significance, Parathyroid carcinoma
- I18S (p.Ile18Ser), gnomAD 1-193122253-T-G, REVEL 0.76, MetaLR 0.63
- V19A (p.Val19Ala), rs2103111676, ClinGen CA343972846, ClinVar RCV003310133, AlphaMissense 0.59, MetaLR 0.43, Uncertain significance, Hereditary cancer-predisposing syndrome
- V19E (p.Val19Glu), Ensembl rs2103111676, MetaLR 0.43, MetaSVM -0.36
- V19M (p.Val19Met), rs1060500013, ClinGen CA16609961, ClinVar RCV000458173, ClinVar RCV004948293, REVEL 0.36, MetaLR 0.49, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- V19V (p.Val19Val), gnomAD 1-193122257-G-C, CADD 13.90
- V20G (p.Val20Gly), rs2527281061, ClinGen CA343972852, ClinVar RCV003177055, Uncertain significance, Hereditary cancer-predisposing syndrome
- V20M (p.Val20Met), rs1197900406, ClinGen CA343972847, ClinVar RCV003184258, ClinVar RCV005101226, AlphaMissense 0.19, MetaLR 0.33, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- K21M (p.Lys21Met), TOPMed rs1675464913
- K21N (p.Lys21Asn), rs1456354852, ClinGen CA343972859, ClinVar RCV003868448, ClinVar RCV005794630, REVEL 0.20, MetaLR 0.32, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- K21R (p.Lys21Arg), TOPMed rs1675464913, MetaLR 0.44, MetaSVM -0.39
- G22* (p.Gly22Ter), rs1675465013, ClinGen CA343972863, cosmic curated COSV66470, ClinVar RCV001241910, AlphaMissense 0.77, MetaLR 0.59, Pathogenic
- G22A (p.Gly22Ala), rs1675465059, ClinGen CA343972865, ClinVar RCV001061587, ClinVar RCV005306262, AlphaMissense 0.26, MetaLR 0.54, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- G22E (p.Gly22Glu), rs1675465059, ClinGen CA343972864, ClinVar RCV003054125, REVEL 0.27, AlphaMissense 0.26, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- G22R (p.Gly22Arg), Ensembl rs1675465013, MetaLR 0.59, MetaSVM 0.22, Pathogenic
- D23E (p.Asp23Glu), rs1675465120, ClinGen CA343972873, ClinVar RCV004517632, gnomAD rs1675465120, REVEL 0.35, MetaLR 0.33, Uncertain significance, Hereditary cancer-predisposing syndrome
- D23G (p.Asp23Gly), rs2527281251, ClinGen CA343972871, ClinVar RCV004517631, Uncertain significance, Hereditary cancer-predisposing syndrome
- D23D (p.Asp23Asp), rs1675465120, gnomAD 1-193122269-C-T, CADD 12.30
- E24* (p.Glu24Ter), rs2527281261, ClinGen CA2697554802, ClinVar RCV003501976, Pathogenic
- E24D (p.Glu24Asp), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10081, Variant assessed as somatic; moderate impact.
- E24K (p.Glu24Lys), rs2527281270, ClinGen CA343972875, ClinVar RCV002367354, Uncertain significance, Hereditary cancer-predisposing syndrome
- E24E (p.Glu24Glu), rs1572139792, gnomAD 1-193122272-A-G, CADD 15.70
- V25G (p.Val25Gly), Ensembl rs1572139806
- V25M (p.Val25Met), rs2527281292, ClinGen CA343972883, ClinVar RCV003171449, Uncertain significance, Hereditary cancer-predisposing syndrome
- V25V (p.Val25Val), rs756346208, gnomAD 1-193122275-G-T, CADD 9.86
- I26V (p.Ile26Val), rs1675465327, ClinGen CA343972890, ClinVar RCV001052674, ClinVar RCV002400305, REVEL 0.37, MetaLR 0.41, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- I26I (p.Ile26Ile), rs1675465371, gnomAD 1-193122278-C-T, CADD 15.90
- F27L (p.Phe27Leu), rs2527281320, ClinGen CA343972897, ClinVar RCV003080361, ClinVar RCV004765670, REVEL 0.89, MetaLR 0.81, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Parathyroid carcinoma
- G28A (p.Gly28Ala), rs1054465259, ClinGen CA34407940, ClinVar RCV000638116, Ensembl rs1054465259, AlphaMissense 0.90, MetaLR 0.69, Uncertain significance, Parathyroid carcinoma
- G28E (p.Gly28Glu), rs1054465259, ClinGen CA343972907, ClinVar RCV002302052, AlphaMissense 0.90, MetaLR 0.69, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- G28W (p.Gly28Trp), Ensembl rs2103111709, MetaLR 0.79, MetaSVM 0.75
- G28V (p.Gly28Val), gnomAD 1-193122283-G-T, REVEL 0.93, MetaLR 0.76
- G28G (p.Gly28Gly), rs780205664, gnomAD 1-193122284-G-A, CADD 14.70
- E29* (p.Glu29Ter), rs1131691698, ClinGen CA343972911, cosmic curated COSV66468, ClinVar RCV000493922, Pathogenic
- E29D (p.Glu29Asp), rs752004076, ClinGen CA34407958, ClinVar RCV001968267, ClinVar RCV002370620, REVEL 0.41, MetaLR 0.25, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- E29G (p.Glu29Gly), Ensembl rs2103111727, MetaLR 0.59, MetaSVM 0.19
- E29E (p.Glu29Glu), rs752004076, gnomAD 1-193122287-G-A, CADD 13.90
- F30L (p.Phe30Leu), Ensembl rs1675465724, MetaLR 0.55, MetaSVM -0.10, Likely benign
- S31F (p.Ser31Phe), rs1558276199, ClinGen CA343972929, ClinVar RCV003608209, ClinVar RCV005311035, AlphaMissense 0.81, MetaLR 0.65, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- S31P (p.Ser31Pro), rs2527281394, ClinGen CA343972925, ClinVar RCV004517635, Uncertain significance, Hereditary cancer-predisposing syndrome
- S31Y (p.Ser31Tyr), rs1558276199, ClinGen CA343972927, cosmic curated COSV10970, ClinVar RCV000689930, REVEL 0.76, AlphaMissense 0.81, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- S31S (p.Ser31Ser), rs550111539, gnomAD 1-193122293-C-T, CADD 15.60
- W32C (p.Trp32Cys), rs2527281408, ClinGen CA2739275497, ClinVar RCV003607826, Pathogenic
- P33H (p.Pro33His), cosmic curated COSV66470, Ensembl rs2103111746
- P33R (p.Pro33Arg), Ensembl rs2103111746
- P33T (p.Pro33Thr), Ensembl rs2103111743, MetaLR 0.61, MetaSVM 0.29, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- P33P (p.Pro33Pro), gnomAD 1-193122299-C-G, CADD 14.90
- K34N (p.Lys34Asn), rs570083294, ClinGen CA343972951, ClinVar RCV003040595, NCI-TCGA Cosmic COSV6646, Uncertain significance, Parathyroid carcinoma
- K34Q (p.Lys34Gln), rs2527281430, ClinGen CA343972947, ClinVar RCV003020775, UniProt VAR 064929, Uncertain significance, Parathyroid carcinoma
- K34R (p.Lys34Arg), rs2527281416, ClinGen CA2580061757, ClinVar RCV002833154, Pathogenic
- K34T (p.Lys34Thr), gnomAD 1-193122301-A-C, REVEL 0.71, MetaLR 0.71
- K34K (p.Lys34Lys), rs570083294, gnomAD 1-193122302-G-A, CADD 16.90
- N35K (p.Asn35Lys), 1000Genomes rs1465622860, gnomAD rs1465622860, REVEL 0.35, MetaLR 0.38
- N35S (p.Asn35Ser), rs2527281449, ClinGen CA343972957, ClinVar RCV003608285, Uncertain significance, Parathyroid carcinoma
- N35Y (p.Asn35Tyr), gnomAD 1-193122303-A-T, REVEL 0.61, MetaLR 0.56
- V36M (p.Val36Met), Ensembl rs2103111753, MetaLR 0.71, MetaSVM 0.56
- K37* (p.Lys37Ter), rs886039716, ClinGen CA10588273, ClinVar RCV000255022, Ensembl rs886039716, Pathogenic
- K37E (p.Lys37Glu), rs886039716, ClinGen CA343972969, ClinVar RCV002455504, Uncertain significance, Hereditary cancer-predisposing syndrome
- K37N (p.Lys37Asn), rs1355286253, ClinGen CA343972972, ClinVar RCV000803442, TOPMed rs1355286253, REVEL 0.40, MetaLR 0.42, Uncertain significance, Parathyroid carcinoma
- K37R (p.Lys37Arg), rs890428520, ClinGen CA34407992, ClinVar RCV002050055, ClinVar RCV005533057, REVEL 0.52, MetaLR 0.47, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- K37K (p.Lys37Lys), rs1355286253, gnomAD 1-193122311-G-A, CADD 17.00
- T38S (p.Thr38Ser), ExAC rs777541949, gnomAD rs777541949, REVEL 0.82, MetaLR 0.89
- N39S (p.Asn39Ser), rs746972930, ClinGen CA1303255, ClinVar RCV001363508, ClinVar RCV002329368, REVEL 0.65, MetaLR 0.68, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma; Hyperparathyroid
- N39D (p.Asn39Asp), gnomAD 1-193122315-A-G, REVEL 0.75, MetaLR 0.76
- N39K (p.Asn39Lys), gnomAD 1-193122317-C-G, REVEL 0.69, MetaLR 0.69
- Y40C (p.Tyr40Cys), rs1019931450, ClinGen CA34408018, ClinVar RCV001924269, ClinVar RCV006367680, AlphaMissense 0.98, MetaLR 0.78, Uncertain significance, Parathyroid carcinoma; Hereditary cancer-predisposing syndrome
- V41L (p.Val41Leu), rs2527281507, ClinGen CA343972994, ClinVar RCV003607816, Uncertain significance, Parathyroid carcinoma
- V41V (p.Val41Val), gnomAD 1-193122323-T-G, CADD 2.91
- V42F (p.Val42Phe), ExAC rs757088747, gnomAD rs757088747, REVEL 0.31, MetaLR 0.33
- V42G (p.Val42Gly), Ensembl rs893243322, MetaLR 0.37, MetaSVM -0.56
- W43* (p.Trp43Ter), rs121434263, ClinGen CA252648, cosmic curated COSV66465, ClinVar RCV000003430, Pathogenic
- W43R (p.Trp43Arg), NCI-TCGA Cosmic COSV1008, cosmic curated COSV10081, MetaLR 0.48, MetaSVM -0.29, Uncertain significance, Hereditary cancer-predisposing syndrome
- G44E (p.Gly44Glu), Ensembl rs2103111787
- G44V (p.Gly44Val), rs2103111787, ClinGen CA343973014, ClinVar RCV002865993, AlphaMissense 0.99, MetaLR 0.68, Uncertain significance, Parathyroid carcinoma
- G44G (p.Gly44Gly), gnomAD 1-193125112-G-A, CADD 15.40
- T45I (p.Thr45Ile), Ensembl rs1675541393, REVEL 0.64, MetaLR 0.56
- T45S (p.Thr45Ser), gnomAD 1-193125114-C-G, REVEL 0.30, MetaLR 0.25
- T45N (p.Thr45Asn), gnomAD 1-193125114-C-A, REVEL 0.45, MetaLR 0.49
- T45T (p.Thr45Thr), gnomAD 1-193125115-T-C, CADD 11.80
- G46* (p.Gly46Ter), Ensembl rs2103113887
- G46R (p.Gly46Arg), gnomAD 1-193125116-G-A, REVEL 0.82, MetaLR 0.76
- G46G (p.Gly46Gly), rs1572142522, gnomAD 1-193125118-A-T, CADD 13.90
- K47E (p.Lys47Glu), gnomAD 1-193125119-A-G, REVEL 0.64, MetaLR 0.70
- K47R (p.Lys47Arg), gnomAD 1-193125120-A-G, REVEL 0.49, MetaLR 0.55
- K47K (p.Lys47Lys), rs2103113895, gnomAD 1-193125121-G-A, CADD 8.38
- E48D (p.Glu48Asp), rs2103113897, ClinGen CA343973054, ClinVar RCV001882197, Ensembl rs2103113897, AlphaMissense 0.10, MetaLR 0.28, Uncertain significance, Parathyroid carcinoma
- E48G (p.Glu48Gly), NCI-TCGA Cosmic COSV6646, cosmic curated COSV66467, MetaLR 0.50, MetaSVM 0.06, Variant assessed as somatic; moderate impact.
- E48V (p.Glu48Val), gnomAD 1-193125123-A-T, REVEL 0.64, MetaLR 0.59
- E48E (p.Glu48Glu), rs2103113897, gnomAD 1-193125124-A-G, AlphaMissense 0.10, MetaLR 0.28
- G49A (p.Gly49Ala), rs2103113902, ClinGen CA343973059, ClinVar RCV004517610, AlphaMissense 0.77, MetaLR 0.78, Uncertain significance, Hereditary cancer-predisposing syndrome
- G49C (p.Gly49Cys), rs200806263, ClinGen CA1303277, ClinVar RCV000793445, ClinVar RCV001011689, REVEL 0.77, MetaLR 0.81, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- G49D (p.Gly49Asp), Ensembl rs2103113902, REVEL 0.74, AlphaMissense 0.77
- G49G (p.Gly49Gly), rs1310600802, gnomAD 1-193125127-C-T, CADD 11.40
- Q50E (p.Gln50Glu), rs2103113904, ClinGen CA343973062, ClinVar RCV001950405, Ensembl rs2103113904, AlphaMissense 0.23, MetaLR 0.40, Uncertain significance, Parathyroid carcinoma; Hereditary cancer-predisposing syndrome
- Q50I (p.Gln50Ile), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- Q50R (p.Gln50Arg), rs1276311364, ClinGen CA343973064, ClinVar RCV000800881, Ensembl rs1276311364, AlphaMissense 0.36, MetaLR 0.37, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Q50K (p.Gln50Lys), gnomAD 1-193125128-C-A, REVEL 0.26, MetaLR 0.30
- P51S (p.Pro51Ser), rs540541696, ClinGen CA1303278, cosmic curated COSV66465, ClinVar RCV002016147, REVEL 0.36, MetaLR 0.53, Uncertain significance, Parathyroid carcinoma
- P51T (p.Pro51Thr), gnomAD 1-193125131-C-A, REVEL 0.35, MetaLR 0.48
- P51R (p.Pro51Arg), gnomAD 1-193125132-C-G, REVEL 0.56, MetaLR 0.61
- P51H (p.Pro51His), gnomAD 1-193125132-C-A, REVEL 0.66, MetaLR 0.70
- R52K (p.Arg52Lys), gnomAD rs1396420212, REVEL 0.40, MetaLR 0.21
- R52R (p.Arg52Arg), rs886045712, gnomAD 1-193125136-A-G, CADD 13.10
- E53* (p.Glu53Ter), rs1675541893, ClinGen CA343973083, cosmic curated COSV10889, ClinVar RCV001245622, Pathogenic
- E53G (p.Glu53Gly), rs1572142551, ClinGen CA343973085, ClinVar RCV000811735, Ensembl rs1572142551, REVEL 0.84, MetaLR 0.71, Uncertain significance, Parathyroid carcinoma
- E53E (p.Glu53Glu), rs2103113918, gnomAD 1-193125139-G-A, CADD 9.35
- Y54* (p.Tyr54Ter), rs121434265, ClinGen CA252653, cosmic curated COSV66466, ClinVar RCV000003433, CADD 36.00, Pathogenic
- Y54C (p.Tyr54Cys), rs2527289367, ClinGen CA343973093, ClinVar RCV004517613, Uncertain significance, Hereditary cancer-predisposing syndrome
- Y54F (p.Tyr54Phe), rs2527289367, ClinGen CA343973094, ClinVar RCV002401035, Uncertain significance, Hereditary cancer-predisposing syndrome
- Y55C (p.Tyr55Cys), rs2103113933, ClinGen CA343973100, ClinVar RCV002029854, Ensembl rs2103113933, AlphaMissense 0.98, MetaLR 0.90, Uncertain significance, Parathyroid carcinoma
- Y55* (p.Tyr55Ter), gnomAD 1-193125145-C-A, CADD 35.00
- T56I (p.Thr56Ile), gnomAD rs1454615241, REVEL 0.85, MetaLR 0.84, Uncertain significance, Parathyroid carcinoma; Hereditary cancer-predisposing syndrome
- T56P (p.Thr56Pro), rs1675542041, ClinGen CA343973104, ClinVar RCV003083026, ClinVar RCV004948995, REVEL 0.85, MetaLR 0.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- L57V (p.Leu57Val), rs755745936, ClinGen CA343973111, ClinVar RCV004517615, Uncertain significance, Hereditary cancer-predisposing syndrome
Public CDC73 analysis runs
- CDC73 analysis run — CDC73 (1,238 variants) — completed 2026-08-22