DICER1 (Endoribonuclease Dicer) variants and mutations
DICER1 (also known as Endoribonuclease Dicer) is a human protein-coding gene encoding an endoribonuclease Dicer protein. It cleaves precursor microRNAs into mature regulatory RNAs that guide post-transcriptional gene silencing. Germline pathogenic variants cause DICER1 tumor-predisposition syndrome, with increased risk of several rare childhood and young-adult tumors. This analysis covers 5,067 DICER1 variants and mutations. Of these, 53% have computational variant effect predictions. Disease context includes DICER1-related tumor predisposition, pleuropulmonary blastoma, and Familial multinodular goiter. Example DICER1 variants include M1?, K2N, and K2R.
Variant analysis overview
- Gene: DICER1
- Protein: Endoribonuclease Dicer
- UniProt accession: Q9UPY3
- Organism: Homo sapiens
- Variants analyzed: 5067
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 4,862 unspecified-consequence records; 121 synonymous variants; 67 missense variants; 7 frameshift variants; 3 stop lost; 4 stop-gained variants; 2 splice-region variants; 1 substitution
- Prediction scores: 2,700 variants have prediction scores (53% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: DICER1-related tumor predisposition, pleuropulmonary blastoma, Familial multinodular goiter, goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, rhabdomyosarcoma, embryonal, 2, embryonal rhabdomyosarcoma, pineoblastoma, Inherited cancer-predisposing syndrome, hereditary neoplastic syndrome, neurodegenerative disease, rhabdomyosarcoma.
Protein structure and variant hotspots
- Protein features: 7 domains; 7 binding sites; 8 post-translational modification sites.
- Structural context: 2,459 variants have structural context.
- PTM context: 18 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 DICER1 variants
Examples include M1?, K2N, K2R, S3I, S3N, S3R, P4R, P4S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV58628, cosmic curated COSV10968
- K2N (p.Lys2Asn), rs1416298002, ClinGen CA390890851, ClinVar RCV001025903, ClinVar RCV006612572, REVEL 0.06, CADD 20.80, Uncertain significance, DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- K2R (p.Lys2Arg), rs2543389834, ClinGen CA390890856, ClinVar RCV003187408, ClinVar RCV003750947, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- S3I (p.Ser3Ile), rs1894132373, ClinGen CA390890836, ClinVar RCV003751670, Uncertain significance, DICER1-related tumor predisposition
- S3N (p.Ser3Asn), rs1894132373, ClinGen CA390890840, ClinVar RCV001046359, ClinVar RCV002372797, Conflicting interpretations, DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- S3R (p.Ser3Arg), rs1894132635, ClinGen CA390890844, ClinVar RCV001352613, ClinVar RCV002420771, REVEL 0.32, CADD 22.40, Uncertain significance, Hereditary cancer-predisposing syndrome
- P4R (p.Pro4Arg), rs2140296806, ClinGen CA390890825, ClinVar RCV001363004, ClinVar RCV002350681, REVEL 0.20, CADD 22.20, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- P4S (p.Pro4Ser), rs772433602, ClinGen CA7331761, ClinVar RCV001017296, ClinVar RCV001363323, REVEL 0.13, CADD 22.60, Uncertain significance, DICER1-related tumor predisposition; Global developmental delay - lung cysts - o
- P4T (p.Pro4Thr), rs772433602, ClinGen CA390890830, ClinVar RCV003752317, Uncertain significance, DICER1-related tumor predisposition
- A5S (p.Ala5Ser), Ensembl rs2140296791
- A5T (p.Ala5Thr), Ensembl rs2140296791
- A5V (p.Ala5Val), rs1894131614, ClinGen CA390890812, ClinVar RCV001308454, ClinVar RCV002393733, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- L6F (p.Leu6Phe), rs777350127, ClinGen CA390890797, ClinVar RCV002408242, ExAC rs777350127, REVEL 0.12, CADD 20.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- L6M (p.Leu6Met), rs2543389683, ClinGen CA390890809, ClinVar RCV003751878, Uncertain significance, DICER1-related tumor predisposition
- Q7* (p.Gln7Ter), Ensembl rs2140296735
- Q7R (p.Gln7Arg), rs117358479, ClinGen CA332137, cosmic curated COSV58626, ClinVar RCV000120631, REVEL 0.05, CADD 16.90, Benign
- P8H (p.Pro8His), rs1894130122, ClinGen CA390890781, ClinVar RCV001225082, Ensembl rs1894130122, REVEL 0.09, CADD 23.20, Uncertain significance, DICER1-related tumor predisposition
- P8L (p.Pro8Leu), rs1894130122, ClinGen CA390890779, ClinVar RCV003109131, Ensembl rs1894130122, Uncertain significance, DICER1-related tumor predisposition
- P8S (p.Pro8Ser), rs748788519, ClinGen CA7331758, ClinVar RCV001015112, ExAC rs748788519, REVEL 0.07, CADD 17.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- P8T (p.Pro8Thr), rs748788519, ClinGen CA390890785, ClinVar RCV001345622, ClinVar RCV003169675, REVEL 0.08, CADD 15.80, Uncertain significance, DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- L9F (p.Leu9Phe), rs1482976224, ClinGen CA390890774, ClinVar RCV000654432, ClinVar RCV001016068, REVEL 0.28, CADD 25.70, Uncertain significance
- L9H (p.Leu9His), cosmic curated COSV58616
- L9P (p.Leu9Pro), rs2543389497, ClinGen CA390890771, ClinVar RCV002437394, Uncertain significance, Hereditary cancer-predisposing syndrome
- L9V (p.Leu9Val), TOPMed rs1482976224, gnomAD rs1482976224, Uncertain significance, Hereditary cancer-predisposing syndrome
- S10C (p.Ser10Cys), rs2140296577, ClinGen CA390890765, ClinVar RCV001999293, Ensembl rs2140296577, Uncertain significance, Hereditary cancer-predisposing syndrome
- S10I (p.Ser10Ile), rs1595469164, ClinGen CA390890760, ClinVar RCV001017900, ClinVar RCV001226700, REVEL 0.09, CADD 23.10, Uncertain significance, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome; DIC
- S10N (p.Ser10Asn), cosmic curated COSV10968, Ensembl rs1595469164, Uncertain significance
- M11I (p.Met11Ile), rs2543389347, ClinGen CA390890744, ClinVar RCV002295697, cosmic curated COSV58628, Uncertain significance, DICER1-related tumor predisposition
- M11K (p.Met11Lys), Ensembl rs2140296524
- M11V (p.Met11Val), rs2543389384, ClinGen CA390890752, ClinVar RCV003083909, REVEL 0.29, CADD 24.70, Uncertain significance, DICER1-related tumor predisposition
- A12P (p.Ala12Pro), Ensembl rs1566816656, Uncertain significance
- A12S (p.Ala12Ser), rs1566816656, ClinGen CA390890736, ClinVar RCV002001780, ClinVar RCV002458946, REVEL 0.28, CADD 23.80, Uncertain significance, DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- A12T (p.Ala12Thr), rs1566816656, ClinGen CA390890740, ClinVar RCV003588253, ClinVar RCV004369228, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- A12V (p.Ala12Val), Ensembl rs2140296489
- G13A (p.Gly13Ala), Ensembl rs1060503610, Uncertain significance
- G13D (p.Gly13Asp), rs1060503610, ClinGen CA16614734, ClinVar RCV000476538, ClinVar RCV001021389, REVEL 0.26, CADD 24.50, Uncertain significance
- G13S (p.Gly13Ser), rs2140296447, ClinGen CA390890726, ClinVar RCV001994283, ClinVar RCV002352697, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- G13V (p.Gly13Val), rs1060503610, ClinGen CA390890720, ClinVar RCV001021392, ClinVar RCV001054920, REVEL 0.35, CADD 23.00, Uncertain significance, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome; DIC
- L14M (p.Leu14Met), ExAC rs779753946, gnomAD rs779753946, REVEL 0.28, CADD 26.10
- Q15* (p.Gln15Ter), Ensembl rs914097642
- Q15K (p.Gln15Lys), Ensembl rs914097642, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q15R (p.Gln15Arg), rs1555376589, ClinGen CA390890706, ClinVar RCV000654403, Ensembl rs1555376589, Uncertain significance
- L16F (p.Leu16Phe), Ensembl rs2140296315
- L16P (p.Leu16Pro), TOPMed rs1595469050, Uncertain significance, DICER1-related tumor predisposition
- L16R (p.Leu16Arg), rs1595469050, ClinGen CA390890689, ClinVar RCV000803325, ClinVar RCV001759530, REVEL 0.41, CADD 27.30, Uncertain significance
- L16V (p.Leu16Val), rs2140296315, ClinGen CA390890697, ClinVar RCV002330580, Uncertain significance, Hereditary cancer-predisposing syndrome
- M17I (p.Met17Ile), Ensembl rs2140296230
- M17L (p.Met17Leu), rs1555376587, ClinGen CA390890684, ClinVar RCV000654398, ClinVar RCV002334206, Likely benign
- M17R (p.Met17Arg), rs2543389016, ClinGen CA390890678, ClinVar RCV003164994, Uncertain significance, Hereditary cancer-predisposing syndrome
- M17V (p.Met17Val), rs1555376587, ClinGen CA390890686, ClinVar RCV001339235, TOPMed rs1555376587, Uncertain significance, DICER1-related tumor predisposition
- T18I (p.Thr18Ile), Ensembl rs2140296198, REVEL 0.27, CADD 26.20, Uncertain significance, DICER1-related tumor predisposition
- T18P (p.Thr18Pro), Ensembl rs2140296215
- T18S (p.Thr18Ser), rs2140296215, ClinGen CA390890667, ClinVar RCV003589437, Uncertain significance, DICER1-related tumor predisposition
- P19H (p.Pro19His), rs587778227, ClinGen CA390890656, ClinVar RCV003207916, Uncertain significance, Hereditary cancer-predisposing syndrome
- P19L (p.Pro19Leu), rs587778227, ClinGen CA158258, ClinVar RCV000120632, ClinVar RCV001854608, REVEL 0.34, CADD 27.60, Uncertain significance
- P19R (p.Pro19Arg), rs587778227, ClinGen CA390890654, ClinVar RCV003752220, ClinVar RCV004614490, Uncertain significance, DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- P19S (p.Pro19Ser), rs1060503638, ClinGen CA390890660, ClinVar RCV001313494, ClinVar RCV002350569, REVEL 0.27, CADD 26.10, Uncertain significance, DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- P19T (p.Pro19Thr), rs1060503638, ClinGen CA16614733, cosmic curated COSV10060, ClinVar RCV000468835, Uncertain significance
- A20D (p.Ala20Asp), rs147660793, ClinGen CA390890644, ClinVar RCV002357939, Uncertain significance, Hereditary cancer-predisposing syndrome
- A20S (p.Ala20Ser), Ensembl rs1555376579, Uncertain significance
- A20T (p.Ala20Thr), rs1555376579, ClinGen CA390890650, ClinVar RCV000654440, ClinVar RCV001024666, REVEL 0.28, CADD 25.90, Uncertain significance, DICER1-related tumor predisposition
- A20V (p.Ala20Val), rs147660793, ClinGen CA332140, ClinVar RCV000120633, ClinVar RCV000203871, REVEL 0.30, CADD 27.80, Benign
- S21F (p.Ser21Phe), rs1289924579, ClinGen CA390890625, cosmic curated COSV99064, ClinVar RCV001319093, REVEL 0.28, CADD 26.70, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; DICER1-related tumor pred
- S22L (p.Ser22Leu), rs1060503626, ClinGen CA16614322, cosmic curated COSV58616, ClinVar RCV000461365, REVEL 0.36, CADD 28.90, Uncertain significance
- S22P (p.Ser22Pro), Ensembl rs2140296028
- P23Q (p.Pro23Gln), cosmic curated COSV58615
- P23R (p.Pro23Arg), Ensembl rs2140295983
- P23S (p.Pro23Ser), rs1555376567, ClinGen CA390890592, ClinVar RCV000531961, ClinVar RCV002367961, REVEL 0.36, CADD 24.00, Uncertain significance
- M24I (p.Met24Ile), rs751520020, ClinGen CA7331753, ClinVar RCV000572085, ClinVar RCV000804944, REVEL 0.24, CADD 26.90, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- M24R (p.Met24Arg), rs1349780844, ClinGen CA390890574, ClinVar RCV003207924, Uncertain significance, Hereditary cancer-predisposing syndrome
- M24T (p.Met24Thr), rs1349780844, ClinGen CA390890576, ClinVar RCV002370855, ClinVar RCV003098500, REVEL 0.29, CADD 25.50, Uncertain significance, DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- M24V (p.Met24Val), rs754439528, ClinGen CA10583231, cosmic curated COSV10060, ClinVar RCV000226545, REVEL 0.27, CADD 23.60, Likely benign
- G25A (p.Gly25Ala), Ensembl rs1555376566, Uncertain significance
- G25D (p.Gly25Asp), rs1555376566, ClinGen CA390890561, cosmic curated COSV10591, ClinVar RCV000561019, REVEL 0.40, CADD 25.60, Uncertain significance
- P26L (p.Pro26Leu), rs201358110, ClinGen CA7331751, ClinVar RCV000537230, ClinVar RCV000565379, REVEL 0.33, CADD 28.20, Likely benign
- P26S (p.Pro26Ser), rs1894122646, ClinGen CA390890556, ClinVar RCV003588223, ClinVar RCV004950426, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- F27L (p.Phe27Leu), rs1555376563, ClinGen CA390890528, ClinVar RCV000654388, Ensembl rs1555376563, Uncertain significance
- F28C (p.Phe28Cys), rs61729796, ClinGen CA265927715, ClinVar RCV001207516, ClinVar RCV002447067, REVEL 0.58, CADD 28.50, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- F28S (p.Phe28Ser), rs61729796, ClinGen CA7331749, ClinVar RCV000460921, ClinVar RCV001017710, REVEL 0.45, CADD 29.10, Uncertain significance
- F28V (p.Phe28Val), rs1333617601, ClinGen CA390890525, ClinVar RCV001042291, ClinVar RCV002427509, REVEL 0.36, CADD 27.00, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- G29A (p.Gly29Ala), rs766491650, ClinGen CA7331748, ClinVar RCV001972289, ClinVar RCV002370565, REVEL 0.29, CADD 25.50, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- G29E (p.Gly29Glu), rs766491650, ClinGen CA390890505, ClinVar RCV002373418, Uncertain significance, Hereditary cancer-predisposing syndrome
- G29R (p.Gly29Arg), rs2140295769, ClinGen CA390890510, ClinVar RCV001361127, ClinVar RCV005540415, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- G29V (p.Gly29Val), rs766491650, ClinGen CA390890504, ClinVar RCV003043828, Uncertain significance, DICER1-related tumor predisposition
- L30V (p.Leu30Val), rs2140295709, ClinGen CA390890502, ClinVar RCV002376049, ClinVar RCV005058554, REVEL 0.26, CADD 23.40, Uncertain significance, DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- P31S (p.Pro31Ser), cosmic curated COSV58618, Ensembl rs2140295672
- W32* (p.Trp32Ter), rs1894119538, ClinGen CA390890486, ClinVar RCV001200943, NCI-TCGA TCGA novel, CADD 36.00, Pathogenic
- W32C (p.Trp32Cys), rs1894119538, ClinGen CA390890485, ClinVar RCV002376662, Ensembl rs1894119538, Uncertain significance, Hereditary cancer-predisposing syndrome
- W32R (p.Trp32Arg), rs2140295654, ClinGen CA390890491, NCI-TCGA Cosmic COSV5862, cosmic curated COSV58627, Uncertain significance, DICER1-related tumor predisposition
- Q33* (p.Gln33Ter), Ensembl rs2140295616
- Q33H (p.Gln33His), ExAC rs773456851, TOPMed rs773456851, gnomAD rs773456851, REVEL 0.30, CADD 24.00, Likely benign
- Q34* (p.Gln34Ter), rs1555376548, ClinGen CA390890474, ClinVar RCV000654373, ClinVar RCV005821748, CADD 37.00, Pathogenic
- Q34E (p.Gln34Glu), Ensembl rs1555376548, Pathogenic
- Q34P (p.Gln34Pro), cosmic curated COSV58630
- E35D (p.Glu35Asp), cosmic curated COSV58629
- A36T (p.Ala36Thr), rs2140295543, ClinGen CA390890460, cosmic curated COSV58616, ClinVar RCV001973322, Uncertain significance, DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- A36V (p.Ala36Val), rs1595468729, ClinGen CA390890455, ClinVar RCV000804397, ClinVar RCV005901996, Uncertain significance
- I37F (p.Ile37Phe), rs772381832, ClinGen CA7331745, ClinVar RCV000471095, ClinVar RCV002446844, REVEL 0.34, CADD 27.10, Uncertain significance
- I37V (p.Ile37Val), rs772381832, ClinGen CA390890454, ClinVar RCV001319673, ExAC rs772381832, REVEL 0.26, CADD 23.50, Uncertain significance, DICER1-related tumor predisposition
- H38L (p.His38Leu), rs1595468669, ClinGen CA390890443, ClinVar RCV003752491, ClinVar RCV004371876, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- H38N (p.His38Asn), rs1595468689, ClinGen CA390890448, ClinVar RCV001017417, ClinVar RCV001053205, REVEL 0.20, CADD 24.40, Uncertain significance, DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- H38R (p.His38Arg), rs1595468669, ClinGen CA390890444, ClinVar RCV001009987, ClinVar RCV001322317, REVEL 0.29, CADD 24.50, Uncertain significance, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome; DIC
- D39A (p.Asp39Ala), rs748564911, ClinGen CA390890437, ClinVar RCV002329827, Uncertain significance, Hereditary cancer-predisposing syndrome
- D39G (p.Asp39Gly), rs748564911, ClinGen CA7331744, ClinVar RCV001058120, ClinVar RCV002327328, REVEL 0.40, CADD 32.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- D39H (p.Asp39His), rs1595468657, ClinGen CA390890439, ClinVar RCV002755457, Uncertain significance, DICER1-related tumor predisposition
- D39N (p.Asp39Asn), rs1595468657, ClinGen CA390890438, cosmic curated COSV58622, ClinVar RCV001010025, Uncertain significance, Hereditary cancer-predisposing syndrome
- D39Y (p.Asp39Tyr), Ensembl rs1595468657, Uncertain significance
- N40D (p.Asn40Asp), rs1482582825, ClinGen CA390890431, ClinVar RCV003358314, gnomAD rs1482582825, Uncertain significance, Hereditary cancer-predisposing syndrome
- I41V (p.Ile41Val), rs1894116766, ClinGen CA390890425, ClinVar RCV001342246, ClinVar RCV002357182, REVEL 0.24, CADD 22.90, Uncertain significance, DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- Y42F (p.Tyr42Phe), rs2543387801, ClinGen CA390890410, ClinVar RCV003229376, ClinVar RCV005824512, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- T43A (p.Thr43Ala), cosmic curated COSV58624
- T43M (p.Thr43Met), rs367797765, ClinGen CA7331742, cosmic curated COSV58628, ClinVar RCV000474678, REVEL 0.43, CADD 28.40, Likely benign
- T43R (p.Thr43Arg), rs367797765, ClinGen CA390890395, ClinVar RCV000497812, ClinVar RCV003105927, REVEL 0.49, CADD 28.10, Likely benign
- P44L (p.Pro44Leu), cosmic curated COSV10968
- P44Q (p.Pro44Gln), TOPMed rs1894115468
- P44S (p.Pro44Ser), rs2140295270, ClinGen CA390890385, ClinVar RCV003466178, Ensembl rs2140295270, Uncertain significance, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome; Her
- P44T (p.Pro44Thr), cosmic curated COSV58620, Ensembl rs2140295270, Uncertain significance
- R45I (p.Arg45Ile), cosmic curated COSV58629
- R45K (p.Arg45Lys), NCI-TCGA Cosmic COSV5861, cosmic curated COSV58616, NCI-TCGA Cosmic COSV5862, Variant assessed as somatic; moderate impact.
- K46I (p.Lys46Ile), rs1595468517, ClinGen CA390890358, ClinVar RCV003752001, REVEL 0.28, CADD 28.20, Uncertain significance, DICER1-related tumor predisposition
- K46Q (p.Lys46Gln), rs1566816326, ClinGen CA390890363, ClinVar RCV000699235, Ensembl rs1566816326, Uncertain significance
- K46R (p.Lys46Arg), rs1595468517, ClinGen CA390890353, ClinVar RCV000820284, ClinVar RCV002381862, REVEL 0.19, CADD 24.80, Uncertain significance
- Y47C (p.Tyr47Cys), rs753790391, ClinGen CA390890339, ClinVar RCV003187399, ClinVar RCV003750946, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- Y47D (p.Tyr47Asp), rs2543387568, ClinGen CA390890343, ClinVar RCV003012012, Uncertain significance, DICER1-related tumor predisposition
- Y47F (p.Tyr47Phe), Ensembl rs753790391, REVEL 0.37, CADD 26.70
- Q48E (p.Gln48Glu), rs1894113719, ClinGen CA390890326, cosmic curated COSV58618, ClinVar RCV001200979, Uncertain significance, DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- Q48K (p.Gln48Lys), rs1894113719, ClinGen CA390890328, ClinVar RCV003293520, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q48P (p.Gln48Pro), rs2543387511, ClinGen CA390890323, ClinVar RCV002394327, Uncertain significance, Hereditary cancer-predisposing syndrome
- V49A (p.Val49Ala), rs1060503624, ClinGen CA16614569, ClinVar RCV000456605, ClinVar RCV005540083, REVEL 0.27, CADD 28.90, Uncertain significance
- V49I (p.Val49Ile), rs1555376413, ClinGen CA390890204, ClinVar RCV001945210, ClinVar RCV004821318, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- V49L (p.Val49Leu), rs1555376413, ClinGen CA390890202, ClinVar RCV000563819, Ensembl rs1555376413, Uncertain significance
- E50K (p.Glu50Lys), rs2543373136, ClinGen CA390890192, ClinVar RCV003589579, Uncertain significance, DICER1-related tumor predisposition
- L51M (p.Leu51Met), rs1894056077, ClinGen CA390890176, ClinVar RCV001883053, gnomAD rs1894056077, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- L51P (p.Leu51Pro), rs2543372751, ClinGen CA390890172, ClinVar RCV004524891, Uncertain significance, Hereditary cancer-predisposing syndrome
- L51R (p.Leu51Arg), rs2543372751, ClinGen CA390890170, ClinVar RCV003588090, REVEL 0.76, CADD 28.30, Uncertain significance, DICER1-related tumor predisposition
- L51V (p.Leu51Val), rs1894056077, ClinGen CA390890177, ClinVar RCV003025960, gnomAD rs1894056077, REVEL 0.23, CADD 25.10, Uncertain significance, DICER1-related tumor predisposition
- L52F (p.Leu52Phe), rs1595466704, ClinGen CA390890164, ClinVar RCV001055765, Ensembl rs1595466704, Uncertain significance, DICER1-related tumor predisposition
- L52R (p.Leu52Arg), rs2543372481, ClinGen CA390890160, ClinVar RCV003223775, Uncertain significance, not provided
- L52V (p.Leu52Val), rs1595466704, ClinGen CA390890166, ClinVar RCV000803836, ClinVar RCV004028155, REVEL 0.23, CADD 23.10, Uncertain significance
- A54P (p.Ala54Pro), Ensembl rs2140289189
- A54T (p.Ala54Thr), NCI-TCGA Cosmic COSV5862, cosmic curated COSV58628, Uncertain significance, DICER1-related tumor predisposition
- A54V (p.Ala54Val), rs1595466689, ClinGen CA390890130, ClinVar RCV000792873, ClinVar RCV004949904, Uncertain significance
- A55G (p.Ala55Gly), rs2140289108, ClinGen CA390890104, ClinVar RCV001939866, Ensembl rs2140289108, Uncertain significance, DICER1-related tumor predisposition
- A55P (p.Ala55Pro), ExAC rs769164427, gnomAD rs769164427, REVEL 0.70, CADD 27.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- A55T (p.Ala55Thr), rs769164427, ClinGen CA390890114, ClinVar RCV000539270, ExAC rs769164427, Uncertain significance
- L56V (p.Leu56Val), rs2140289070, ClinGen CA390890098, ClinVar RCV002025752, ClinVar RCV004947027, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- D57E (p.Asp57Glu), Ensembl rs1894054209, Uncertain significance, Hereditary cancer-predisposing syndrome
- D57H (p.Asp57His), 1000Genomes rs570871959, ExAC rs570871959, REVEL 0.41, CADD 26.30, Uncertain significance
- D57N (p.Asp57Asn), rs570871959, ClinGen CA390890090, NCI-TCGA Cosmic COSV1006, cosmic curated COSV10060, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- H58D (p.His58Asp), rs1555376409, ClinGen CA390890075, ClinVar RCV000552718, ClinVar RCV002404572, Uncertain significance
- H58N (p.His58Asn), Ensembl rs1555376409, Uncertain significance
- H58R (p.His58Arg), rs1595466613, ClinGen CA390890072, cosmic curated COSV58619, ClinVar RCV001012935, Uncertain significance, not provided; DICER1-related tumor predisposition; Hereditary cancer-predisposin
- H58Y (p.His58Tyr), rs1555376409, ClinGen CA390890074, ClinVar RCV003590629, Uncertain significance, DICER1-related tumor predisposition
- N59D (p.Asn59Asp), rs1368593353, ClinGen CA390890067, ClinVar RCV001012997, ClinVar RCV001860728, REVEL 0.36, CADD 26.30, Uncertain significance, DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- T60I (p.Thr60Ile), rs587778228, ClinGen CA158267, ClinVar RCV000120637, ClinVar RCV000230149, REVEL 0.32, CADD 22.40, Likely benign
- I61V (p.Ile61Val), rs1060503646, ClinGen CA16614731, ClinVar RCV000458877, ClinVar RCV001013299, Uncertain significance
- V62D (p.Val62Asp), Ensembl rs2140288792
- V62I (p.Val62Ile), rs746671039, ClinGen CA7331717, cosmic curated COSV58621, ClinVar RCV000654380, REVEL 0.13, CADD 22.30, Likely benign
- C63F (p.Cys63Phe), rs1894050914, ClinGen CA390890039, ClinVar RCV002004060, ClinVar RCV002407280, Uncertain significance, Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- C63G (p.Cys63Gly), rs2543371218, ClinGen CA390890042, ClinVar RCV003752136, Uncertain significance, DICER1-related tumor predisposition
- C63Y (p.Cys63Tyr), rs1894050914, ClinGen CA390890041, ClinVar RCV001220802, Ensembl rs1894050914, Uncertain significance, DICER1-related tumor predisposition
- L64F (p.Leu64Phe), rs1231822339, ClinGen CA390890030, ClinVar RCV000531832, ClinVar RCV001013744, REVEL 0.43, CADD 23.50, Likely benign
- L64S (p.Leu64Ser), rs2543371005, ClinGen CA390890034, ClinVar RCV003590106, Uncertain significance, DICER1-related tumor predisposition
- N65I (p.Asn65Ile), rs2140288694, ClinGen CA390890020, ClinVar RCV001986351, Ensembl rs2140288694, Uncertain significance, DICER1-related tumor predisposition
- N65Y (p.Asn65Tyr), Ensembl rs2140288712
- T66A (p.Thr66Ala), rs1555376402, ClinGen CA390890014, ClinVar RCV000654470, ClinVar RCV002422426, Uncertain significance
- T66I (p.Thr66Ile), rs777362732, ClinGen CA7331716, ClinVar RCV001911645, ClinVar RCV002423002, REVEL 0.66, CADD 24.30, Uncertain significance, DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- T66S (p.Thr66Ser), rs777362732, ClinGen CA390890006, ClinVar RCV001207613, ClinVar RCV002418697, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; DICER1-related tumor pred
- G67D (p.Gly67Asp), Ensembl rs2140288591, Uncertain significance
- G67R (p.Gly67Arg), Ensembl rs2140288627
- G67V (p.Gly67Val), Ensembl rs2140288591, REVEL 0.94, CADD 25.80, Uncertain significance, Hereditary cancer-predisposing syndrome
- S68L (p.Ser68Leu), cosmic curated COSV10650, REVEL 0.47, CADD 26.20
- G69E (p.Gly69Glu), rs1894048765, ClinGen CA390889981, cosmic curated COSV10740, ClinVar RCV004524904, Uncertain significance, Hereditary cancer-predisposing syndrome
- G69R (p.Gly69Arg), rs1595466411, ClinGen CA390889986, ClinVar RCV001014272, Ensembl rs1595466411, REVEL 0.96, CADD 24.50, Uncertain significance, Hereditary cancer-predisposing syndrome
- G69V (p.Gly69Val), cosmic curated COSV58624, TOPMed rs1894048765, Uncertain significance
- T71A (p.Thr71Ala), rs2543370362, ClinGen CA390889964, ClinVar RCV003293496, Uncertain significance, Hereditary cancer-predisposing syndrome
- T71I (p.Thr71Ile), cosmic curated COSV10060, Uncertain significance, Hereditary cancer-predisposing syndrome
- T71R (p.Thr71Arg), ESP rs376657431, ExAC rs376657431, TOPMed rs376657431, gnomAD rs376657431, REVEL 0.91, CADD 24.50, Uncertain significance, Hereditary cancer-predisposing syndrome
- F72L (p.Phe72Leu), cosmic curated COSV10943, REVEL 0.57, CADD 28.50
- F72V (p.Phe72Val), Ensembl rs1234667680
Public DICER1 analysis runs
- DICER1 analysis run — DICER1 (5,067 variants) — completed 2026-08-18