MUTYH (Adenine DNA glycosylase) variants and mutations
MUTYH (also known as Adenine DNA glycosylase) is a human protein-coding gene encoding an adenine DNA glycosylase protein. It removes adenines incorrectly paired with oxidized guanine, preventing characteristic G:C-to-T:A mutations during base-excision repair. Biallelic loss-of-function variants cause MUTYH-associated polyposis and substantially increase colorectal-cancer risk. This analysis covers 1,896 MUTYH variants and mutations. Of these, 72% have computational variant effect predictions. Disease context includes familial adenomatous polyposis 2, Familial adenomatous polyposis, and gastric cancer. Example MUTYH variants include M1?, M1I, and M1K.
Variant analysis overview
- Gene: MUTYH
- Protein: Adenine DNA glycosylase
- UniProt accession: Q9UIF7
- Organism: Homo sapiens
- Variants analyzed: 1896
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,656 unspecified-consequence records; 1 stop lost; 62 synonymous variants; 141 missense variants; 19 frameshift variants; 8 stop-gained variants; 2 in-frame deletions; 1 splice-region variants; 5 substitution
- Prediction scores: 1,365 variants have prediction scores (72% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: familial adenomatous polyposis 2, Familial adenomatous polyposis, gastric cancer, colorectal cancer, colon carcinoma, mutyh-associated polyposis, Inherited cancer-predisposing syndrome, hereditary neoplastic syndrome, breast carcinoma, colorectal adenocarcinoma, gastric neoplasm, pilomatrixoma.
Protein structure and variant hotspots
- Protein features: 1 domains; 4 binding sites.
- Structural context: 541 variants have structural context.
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 MUTYH variants
Examples include M1?, M1I, M1K, M1L, M1R, M1T, M1V, T2I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA Cosmic COSV1005, cosmic curated COSV10051, Variant assessed as somatic; high impact.
- M1I (p.Met1Ile), rs757906591, ClinGen CA340137924, ClinVar RCV002375653, ClinGen CA089497, MetaLR 0.09, MetaSVM -1.11, Uncertain significance, Hereditary cancer-predisposing syndrome
- M1K (p.Met1Lys), rs865954220, ClinGen CA340137926, ClinVar RCV001307520, MetaLR 0.05, MetaSVM -1.04, Uncertain significance, Hereditary cancer-predisposing syndrome
- M1L (p.Met1Leu), rs1646823787, ClinGen CA340137932, ClinVar RCV001874964, ClinVar RCV004945754, MetaLR 0.07, MetaSVM -1.05, Uncertain significance, Hereditary cancer-predisposing syndrome
- M1R (p.Met1Arg), rs865954220, ClinGen CA16610148, ClinVar RCV000464651, MetaLR 0.05, MetaSVM -1.04, Uncertain significance, Hereditary cancer-predisposing syndrome
- M1T (p.Met1Thr), rs865954220, ClinGen CA10577758, ClinVar RCV000223135, ClinVar RCV000687399, MetaLR 0.05, MetaSVM -1.04, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided
- M1V (p.Met1Val), rs1646823787, ClinGen CA340137930, ClinVar RCV001066037, ClinVar RCV001188722, MetaLR 0.07, MetaSVM -1.05, Uncertain significance, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- T2I (p.Thr2Ile), rs2149249222, ClinGen CA340137914, ClinVar RCV002014531, ClinVar RCV005439041, AlphaMissense 0.18, MetaLR 0.03, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- T2P (p.Thr2Pro), rs1646822689, ClinGen CA340137919, ClinVar RCV001297434, Ensembl rs1646822689, AlphaMissense 0.09, MetaLR 0.04, Uncertain significance, Familial adenomatous polyposis 2
- P3A (p.Pro3Ala), rs876659091, ClinGen CA10577757, ClinVar RCV000217552, gnomAD rs876659091, AlphaMissense 0.07, MetaLR 0.04, Uncertain significance, Hereditary cancer-predisposing syndrome
- P3L (p.Pro3Leu), rs745424307, ClinGen CA10577756, ClinVar RCV000215169, ClinVar RCV000818843, CADD 7.35, Uncertain significance, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- P3R (p.Pro3Arg), rs745424307, ClinGen CA089510, NCI-TCGA Cosmic COSV1005, cosmic curated COSV10051, CADD 9.23, Conflicting interpretations, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- P3S (p.Pro3Ser), gnomAD rs876659091, Uncertain significance
- L4F (p.Leu4Phe), rs587782404, ClinGen CA340137905, ClinVar RCV000772839, ClinVar RCV000804149, AlphaMissense 0.07, MetaLR 0.03, Uncertain significance, not specified; Hereditary cancer-predisposing syndrome; Familial adenomatous pol
- L4I (p.Leu4Ile), rs1064794772, ClinGen CA16617171, ClinVar RCV000481735, ClinVar RCV002376876, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2; not s
- L4P (p.Leu4Pro), TOPMed rs1570592292
- L4V (p.Leu4Val), rs587782404, ClinGen CA012116, ClinVar RCV000131438, TOPMed rs587782404, AlphaMissense 0.07, MetaLR 0.03, Uncertain significance, Hereditary cancer-predisposing syndrome
- V5A (p.Val5Ala), rs1553137063, ClinGen CA340137891, ClinVar RCV000640354, ClinVar RCV004944041, CADD 8.82, Uncertain significance, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- V5F (p.Val5Phe), rs786201933, ClinGen CA340137896, ClinVar RCV001177255, gnomAD rs786201933, AlphaMissense 0.15, MetaLR 0.05, Uncertain significance, Hereditary cancer-predisposing syndrome
- V5I (p.Val5Ile), rs786201933, ClinGen CA340137894, ClinVar RCV000776242, ClinVar RCV003461040, AlphaMissense 0.15, MetaLR 0.05, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- V5L (p.Val5Leu), rs786201933, ClinGen CA012678, ClinVar RCV000164470, ClinVar RCV001850298, AlphaMissense 0.15, MetaLR 0.05, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- S6C (p.Ser6Cys), rs587782837, ClinGen CA10577754, ClinVar RCV000214713, ClinVar RCV000640357, AlphaMissense 0.12, MetaLR 0.07, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- S6Y (p.Ser6Tyr), rs587782837, ClinGen CA011733, ClinVar RCV000132425, ClinVar RCV000212695, AlphaMissense 0.12, MetaLR 0.07, Conflicting interpretations, Familial adenomatous polyposis 2; Gastric cancer; Hereditary cancer-predisposing
- R7C (p.Arg7Cys), rs1382218222, ClinGen CA340137878, ClinVar RCV000698395, ClinVar RCV004026444, AlphaMissense 0.09, MetaLR 0.04, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- R7G (p.Arg7Gly), rs1382218222, ClinGen CA340137880, ClinVar RCV001216494, TOPMed rs1382218222, AlphaMissense 0.09, MetaLR 0.04, Uncertain significance, Familial adenomatous polyposis 2
- R7H (p.Arg7His), rs1114167687, ClinGen CA340137873, ClinVar RCV002048722, Ensembl rs1114167687, AlphaMissense 0.16, MetaLR 0.05, Uncertain significance, Familial adenomatous polyposis 2
- R7L (p.Arg7Leu), rs1114167687, ClinGen CA340137875, ClinVar RCV000491930, ClinVar RCV001238814, AlphaMissense 0.16, MetaLR 0.05, Uncertain significance, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- R7P (p.Arg7Pro), rs1114167687, ClinGen CA340137876, ClinVar RCV004523665, AlphaMissense 0.16, MetaLR 0.05, Uncertain significance, Hereditary cancer-predisposing syndrome
- L8P (p.Leu8Pro), rs1570591840, ClinGen CA340137867, ClinVar RCV003049314, ClinVar RCV003170923, AlphaMissense 0.06, MetaLR 0.04, Uncertain significance, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- L8R (p.Leu8Arg), rs1570591840, ClinGen CA340137866, ClinVar RCV001015414, ClinVar RCV001873264, AlphaMissense 0.06, MetaLR 0.04, Uncertain significance, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- L8V (p.Leu8Val), rs753502884, ClinGen CA089465, ClinVar RCV003881978, ClinVar RCV005403368, CADD 10.70, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- S9N (p.Ser9Asn), rs1570591736, ClinGen CA340137859, ClinVar RCV000800108, ClinVar RCV006552866, AlphaMissense 0.15, MetaLR 0.03, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- S9R (p.Ser9Arg), rs2524698812, ClinGen CA340137852, ClinVar RCV003614594, Uncertain significance, Familial adenomatous polyposis 2
- R10C (p.Arg10Cys), rs1570591700, ClinGen CA340137847, ClinVar RCV001189247, Ensembl rs1570591700, AlphaMissense 0.15, MetaLR 0.03, Uncertain significance, Hereditary cancer-predisposing syndrome
- R10H (p.Arg10His), rs755928199, ClinGen CA089468, ClinVar RCV000527208, ClinVar RCV000565975, CADD 12.70, Uncertain significance, Hereditary cancer-predisposing syndrome; not specified; Familial adenomatous pol
- R10L (p.Arg10Leu), ExAC rs755928199, TOPMed rs755928199, gnomAD rs755928199, Uncertain significance
- R10P (p.Arg10Pro), rs755928199, ClinGen CA089469, ClinVar RCV000581823, ClinVar RCV001065926, CADD 13.70, Uncertain significance, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome; not p
- R10S (p.Arg10Ser), rs1570591700, ClinGen CA340137851, ClinVar RCV001016909, Ensembl rs1570591700, AlphaMissense 0.15, MetaLR 0.03, Likely benign, Hereditary cancer-predisposing syndrome
- L11P (p.Leu11Pro), rs752665489, ClinGen CA340137839, ClinVar RCV003011060, CADD 4.44, Uncertain significance, Familial adenomatous polyposis 2
- L11R (p.Leu11Arg), rs752665489, ClinGen CA089471, ClinVar RCV001019783, ClinVar RCV001766848, CADD 11.70, Likely benign, Hereditary cancer-predisposing syndrome
- L11V (p.Leu11Val), rs878854188, ClinGen CA10581815, ClinVar RCV000227994, ClinVar RCV001019150, CADD 9.01, Uncertain significance, Hereditary cancer-predisposing syndrome
- W12* (p.Trp12Ter), rs767402084, ClinGen CA340137829, ClinVar RCV000569145, ClinVar RCV001853721, CADD 33.00, Pathogenic
- W12C (p.Trp12Cys), rs767402084, ClinGen CA340137827, cosmic curated COSV10051, ClinVar RCV001999437, CADD 25.60, Uncertain significance, Familial adenomatous polyposis 2
- W12R (p.Trp12Arg), rs1060501343, ClinGen CA16610127, ClinVar RCV000468941, Ensembl rs1060501343, AlphaMissense 0.18, MetaLR 0.03, Uncertain significance, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- W12S (p.Trp12Ser), rs1064795596, ClinGen CA340137833, ClinVar RCV001020690, ClinVar RCV001351536, CADD 15.40, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- A13G (p.Ala13Gly), gnomAD rs587780747, Uncertain significance, Hereditary cancer-predisposing syndrome
- A13T (p.Ala13Thr), rs375349172, ClinGen CA338910, ClinVar RCV000199845, ClinVar RCV000216921, CADD 10.00, PolyPhen-2 0.06, Benign, Hereditary cancer-predisposing syndrome
- A13V (p.Ala13Val), rs587780747, ClinGen CA013492, ClinVar RCV000123150, ClinVar RCV000131635, CADD 0.49, PolyPhen-2 0.10, Conflicting interpretations, Familial adenomatous polyposis 2; Gastric cancer; Hereditary cancer-predisposing
- I14L (p.Ile14Leu), rs1570467299, ClinGen CA340137333, ClinVar RCV001021863, Ensembl rs1570467299, AlphaMissense 0.15, MetaLR 0.60, Uncertain significance, Hereditary cancer-predisposing syndrome
- I14M (p.Ile14Met), rs202240122, ClinGen CA013551, ClinVar RCV000130881, ExAC rs202240122, AlphaMissense 0.14, MetaLR 0.75, Conflicting interpretations, Hereditary cancer-predisposing syndrome
- I14N (p.Ile14Asn), ExAC rs758220894, gnomAD rs758220894, CADD 22.30, PolyPhen-2 0.96, Uncertain significance, Familial adenomatous polyposis 2
- I14V (p.Ile14Val), rs1570467299, ClinGen CA340137330, ClinVar RCV001183941, ClinVar RCV001284667, AlphaMissense 0.15, MetaLR 0.60, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- M15I (p.Met15Ile), rs1570467004, ClinGen CA340137306, ClinVar RCV002342375, ClinGen CA340137302, AlphaMissense 0.80, MetaLR 0.81, Uncertain significance, Hereditary cancer-predisposing syndrome
- M15R (p.Met15Arg), rs201163858, ClinGen CA340137307, ClinVar RCV000687407, ClinVar RCV002331331, AlphaMissense 0.59, MetaLR 0.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- M15T (p.Met15Thr), rs201163858, ClinGen CA057589, ClinVar RCV000467236, ClinVar RCV000478752, AlphaMissense 0.59, MetaLR 0.80, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- M15V (p.Met15Val), rs1570467133, ClinGen CA340137316, ClinVar RCV000794526, ClinVar RCV002332595, AlphaMissense 0.26, MetaLR 0.77, Pathogenic/Likely pathogenic, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- R16K (p.Arg16Lys), rs1645586485, ClinGen CA340137294, ClinVar RCV003615398, ClinVar RCV005687275, AlphaMissense 0.07, MetaLR 0.42, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- R16M (p.Arg16Met), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10058, Uncertain significance, Hereditary cancer-predisposing syndrome
- R16S (p.Arg16Ser), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10058, Uncertain significance, Hereditary cancer-predisposing syndrome
- R16W (p.Arg16Trp), rs1570466955, ClinGen CA340137297, ClinVar RCV000803844, ClinVar RCV005672478, AlphaMissense 0.19, MetaLR 0.77, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- K17E (p.Lys17Glu), rs2524366542, ClinGen CA340137285, ClinVar RCV002343008, ClinVar RCV006470795, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- P18A (p.Pro18Ala), Ensembl rs2149189672, Uncertain significance, in FAP2
- P18L (p.Pro18Leu), rs79777494, ClinGen CA011771, cosmic curated COSV10744, ClinVar RCV000034676, AlphaMissense 0.10, MetaLR 0.37, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not specified; not provided
- P18S (p.Pro18Ser), Ensembl rs2149189672, Uncertain significance, Hereditary cancer-predisposing syndrome
- R19* (p.Arg19Ter), rs587780088, ClinGen CA013854, cosmic curated COSV62743, ClinVar RCV000115767, AlphaMissense 0.08, MetaLR 0.79, Pathogenic
- R19G (p.Arg19Gly), rs587780088, ClinGen CA056632, ClinVar RCV000467752, ClinVar RCV003168772, AlphaMissense 0.08, MetaLR 0.79, Benign, Hereditary cancer-predisposing syndrome
- R19L (p.Arg19Leu), rs587780081, ClinGen CA340137249, ClinVar RCV001301888, ClinVar RCV005672655, AlphaMissense 0.08, MetaLR 0.55, Uncertain significance, not provided
- R19P (p.Arg19Pro), rs587780081, ClinGen CA340137251, ClinVar RCV000986307, ClinVar RCV005672538, AlphaMissense 0.08, MetaLR 0.55, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- R19Q (p.Arg19Gln), rs587780081, ClinGen CA011787, ClinVar RCV000115752, ClinVar RCV000212697, AlphaMissense 0.08, MetaLR 0.55, Conflicting interpretations, Familial adenomatous polyposis 2; Gastric cancer; Hereditary cancer-predisposing
- A20E (p.Ala20Glu), rs756437904, ClinGen CA057179, ClinVar RCV000584265, ExAC rs756437904, AlphaMissense 0.12, MetaLR 0.72, Conflicting interpretations, Hereditary cancer-predisposing syndrome
- A20S (p.Ala20Ser), rs2524365524, ClinGen CA340137244, ClinVar RCV002296593, ClinVar RCV005674978, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- A20V (p.Ala20Val), ExAC rs756437904, gnomAD rs756437904, Uncertain significance, Hereditary cancer-predisposing syndrome
- A21G (p.Ala21Gly), Ensembl rs1057517460, Uncertain significance
- A21P (p.Ala21Pro), rs943979644, ClinGen CA21840925, ClinVar RCV001919881, ClinVar RCV006407004, AlphaMissense 0.12, MetaLR 0.63, Conflicting interpretations, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- A21V (p.Ala21Val), rs1057517460, ClinGen CA16040740, ClinVar RCV000409877, ClinVar RCV000571651, AlphaMissense 0.09, MetaLR 0.64, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Gastric cancer; Familial adenomatous po
- V22E (p.Val22Glu), Ensembl rs2149189215, Uncertain significance, Hereditary cancer-predisposing syndrome
- V22G (p.Val22Gly), Ensembl rs2149189215
- V22I (p.Val22Ile), rs1570466281, ClinGen CA915941280, ClinVar RCV001025231, Ensembl rs1570466281, Uncertain significance, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- V22L (p.Val22Leu), rs3219484, ClinGen CA340137214, ClinVar RCV000566823, ClinVar RCV000701653, AlphaMissense 0.10, MetaLR 0.11, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- V22M (p.Val22Met), rs3219484, ClinGen CA011797, cosmic curated COSV62742, ClinVar RCV000034677, AlphaMissense 0.10, MetaLR 0.11, Benign, Hereditary cancer-predisposing syndrome; not specified; not provided
- G23E (p.Gly23Glu), rs1553131563, ClinGen CA340137198, NCI-TCGA Cosmic COSV6274, cosmic curated COSV62742, AlphaMissense 0.11, MetaLR 0.68, Benign, Hereditary cancer-predisposing syndrome
- S24C (p.Ser24Cys), rs386833408, ClinGen CA340137192, ClinVar RCV003614430, ClinVar RCV005675259, AlphaMissense 0.06, MetaLR 0.62, Uncertain significance, Hereditary cancer-predisposing syndrome
- S24G (p.Ser24Gly), rs386833408, ClinGen CA011818, ClinVar RCV000034679, ClinVar RCV001189986, AlphaMissense 0.06, MetaLR 0.62, Uncertain significance, Hereditary cancer-predisposing syndrome
- S24N (p.Ser24Asn), rs876659143, ClinGen CA10577751, ClinVar RCV000216257, ClinVar RCV000640380, AlphaMissense 0.09, MetaLR 0.63, Benign, Hereditary cancer-predisposing syndrome
- S24R (p.Ser24Arg), rs1570466003, ClinGen CA340137186, ClinVar RCV000824636, ClinVar RCV005672498, AlphaMissense 0.11, MetaLR 0.50, Uncertain significance, Hereditary cancer-predisposing syndrome
- S24T (p.Ser24Thr), Ensembl rs876659143, Uncertain significance, Hereditary cancer-predisposing syndrome
- G25D (p.Gly25Asp), rs75321043, ClinGen CA011829, cosmic curated COSV10744, ClinVar RCV000034680, AlphaMissense 0.10, MetaLR 0.64, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not specified; not provided
- G25S (p.Gly25Ser), rs764645557, ClinGen CA026524, ClinVar RCV000814205, ExAC rs764645557, AlphaMissense 0.08, MetaLR 0.51, Uncertain significance, Familial adenomatous polyposis 2
- G25V (p.Gly25Val), 1000Genomes rs75321043, ExAC rs75321043, TOPMed rs75321043, gnomAD rs75321043, Benign
- H26D (p.His26Asp), rs2149188841, ClinGen CA340137180, ClinVar RCV001881408, ClinVar RCV005672799, AlphaMissense 0.10, MetaLR 0.60, Uncertain significance, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- H26L (p.His26Leu), rs1645577358, ClinGen CA340137176, ClinVar RCV002409896, gnomAD rs1645577358, AlphaMissense 0.08, MetaLR 0.42, Benign, Hereditary cancer-predisposing syndrome
- H26Q (p.His26Gln), rs776396492, ClinGen CA340137175, ClinVar RCV002416631, Uncertain significance, Hereditary cancer-predisposing syndrome
- R27K (p.Arg27Lys), rs587782693, ClinGen CA014346, ClinVar RCV000132129, ClinVar RCV000411408, AlphaMissense 0.08, MetaLR 0.54, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- K28* (p.Lys28Ter), rs2524361370, ClinGen CA340137165, ClinVar RCV002430325, ClinVar RCV005097213, Pathogenic
- K28M (p.Lys28Met), rs1553131499, ClinGen CA340137162, ClinVar RCV000588717, Ensembl rs1553131499, AlphaMissense 0.19, MetaLR 0.78, Uncertain significance, not provided
- K28N (p.Lys28Asn), Ensembl rs2149188614, Uncertain significance, Hereditary cancer-predisposing syndrome
- K28R (p.Lys28Arg), rs1553131499, ClinGen CA340137163, ClinVar RCV002434893, ClinVar RCV005097230, AlphaMissense 0.19, MetaLR 0.78, Conflicting interpretations, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- Q29* (p.Gln29Ter), rs768386527, ClinGen CA058129, ClinVar RCV000671051, ClinVar RCV000773209, Pathogenic
- Q29P (p.Gln29Pro), rs2524360542, ClinGen CA340137156, ClinVar RCV004523689, Uncertain significance, Hereditary cancer-predisposing syndrome
- A30P (p.Ala30Pro), rs1557492581, ClinGen CA340137151, ClinVar RCV003182808, AlphaMissense 0.09, MetaLR 0.58, Benign, Hereditary cancer-predisposing syndrome
- A30S (p.Ala30Ser), rs1557492581, ClinGen CA340137150, ClinVar RCV000702932, ClinVar RCV002369941, AlphaMissense 0.09, MetaLR 0.58, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- A30V (p.Ala30Val), rs1570465480, ClinGen CA340137147, ClinVar RCV000819657, ClinVar RCV005672490, AlphaMissense 0.09, MetaLR 0.58, Uncertain significance, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- A31D (p.Ala31Asp), rs1645573077, ClinGen CA340137141, ClinVar RCV001350839, ClinVar RCV004651612, AlphaMissense 0.11, MetaLR 0.64, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2; not p
- A31T (p.Ala31Thr), rs1553131489, ClinGen CA340137146, ClinVar RCV000539217, ClinVar RCV002377080, AlphaMissense 0.08, MetaLR 0.64, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- S32I (p.Ser32Ile), rs786202903, ClinGen CA014723, ClinVar RCV000165964, ClinVar RCV000802392, AlphaMissense 0.09, MetaLR 0.63, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- S32N (p.Ser32Asn), rs786202903, ClinGen CA340137137, ClinVar RCV004523692, AlphaMissense 0.09, MetaLR 0.63, Benign, Hereditary cancer-predisposing syndrome
- S32R (p.Ser32Arg), Ensembl rs2149188328
- Q33* (p.Gln33Ter), rs886046367, ClinGen CA10611140, ClinVar RCV000286237, Ensembl rs886046367, Pathogenic
- Q33H (p.Gln33His), rs2149188194, Ensembl rs2149188194, ClinGen CA340137129, ClinVar RCV003854537, AlphaMissense 0.13, MetaLR 0.53, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q33P (p.Gln33Pro), rs863224701, ClinGen CA336648, ClinVar RCV000196716, ClinVar RCV000773663, AlphaMissense 0.06, MetaLR 0.59, Uncertain significance, not specified; not provided; Familial adenomatous polyposis 2
- Q33R (p.Gln33Arg), rs863224701, ClinGen CA340137130, ClinVar RCV000566702, ClinVar RCV001858117, AlphaMissense 0.06, MetaLR 0.59, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- E34Q (p.Glu34Gln), rs1557492431, ClinGen CA340137126, ClinVar RCV000772801, ClinVar RCV001869087, AlphaMissense 0.08, MetaLR 0.61, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- G35R (p.Gly35Arg), rs876658745, ClinGen CA10577750, ClinVar RCV000213765, ClinVar RCV000456712, AlphaMissense 0.09, MetaLR 0.40, Uncertain significance, Hereditary cancer-predisposing syndrome
- R36K (p.Arg36Lys), rs1376695165, ClinGen CA340137112, ClinVar RCV001009838, ClinVar RCV001212107, AlphaMissense 0.08, MetaLR 0.56, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not specified; Familial adenomatous pol
- R36S (p.Arg36Ser), rs1553131446, ClinGen CA340137108, ClinVar RCV000565376, Ensembl rs1553131446, AlphaMissense 0.14, MetaLR 0.56, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q37* (p.Gln37Ter), rs1270853129, ClinGen CA340137105, ClinVar RCV003164712, AlphaMissense 0.06, MetaLR 0.48, Pathogenic
- Q37E (p.Gln37Glu), rs1270853129, ClinGen CA340137106, ClinVar RCV000640355, ClinVar RCV002458050, AlphaMissense 0.06, MetaLR 0.48, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q37K (p.Gln37Lys), rs1270853129, ClinGen CA340137107, ClinVar RCV000575333, gnomAD rs1270853129, AlphaMissense 0.06, MetaLR 0.48, Uncertain significance, Hereditary cancer-predisposing syndrome
- K38N (p.Lys38Asn), rs1645568780, ClinGen CA340137085, ClinVar RCV002829940, TOPMed rs1645568780, AlphaMissense 0.14, MetaLR 0.56, Uncertain significance, Familial adenomatous polyposis 2
- K38R (p.Lys38Arg), rs1570464856, ClinGen CA340137090, ClinVar RCV001009989, ClinVar RCV001212919, AlphaMissense 0.07, MetaLR 0.54, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- H39R (p.His39Arg), rs2149187814, ClinGen CA340137078, ClinVar RCV001878321, Ensembl rs2149187814, AlphaMissense 0.05, MetaLR 0.50, Uncertain significance, Familial adenomatous polyposis 2
- H39Y (p.His39Tyr), rs1553131429, ClinGen CA340137081, ClinVar RCV000572882, ClinVar RCV003505121, AlphaMissense 0.07, MetaLR 0.54, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- H39N (p.His39Asn), rs773072703, gnomAD 1-45329387-G-T, CADD 5.51
- A40D (p.Ala40Asp), rs1060501338, ClinGen CA16610145, cosmic curated COSV62743, ClinVar RCV000475875, AlphaMissense 0.12, MetaLR 0.10, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- A40P (p.Ala40Pro), rs1432929984, ClinGen CA340137069, ClinVar RCV001359395, ClinVar RCV005672687, AlphaMissense 0.08, MetaLR 0.09, Conflicting interpretations, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- K41E (p.Lys41Glu), rs2524355983, ClinGen CA340137061, ClinVar RCV003585668, Uncertain significance, Hereditary cancer-predisposing syndrome
- K41R (p.Lys41Arg), rs2524355850, ClinGen CA340137055, ClinVar RCV003614748, ClinVar RCV005675279, Uncertain significance, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- N42H (p.Asn42His), rs2149187667, ClinGen CA340137049, ClinVar RCV001359734, ClinVar RCV005682636, AlphaMissense 0.07, MetaLR 0.44, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- N42I (p.Asn42Ile), NCI-TCGA Cosmic COSV6274, cosmic curated COSV62743, 1000Genomes rs563275223, ExAC rs563275223, Likely benign
- N42K (p.Asn42Lys), rs200514222, ClinGen CA340137040, ClinVar RCV000640353, ClinVar RCV004944040, AlphaMissense 0.09, MetaLR 0.39, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- N42S (p.Asn42Ser), rs563275223, ClinGen CA012458, ClinVar RCV000131452, ClinVar RCV000824066, AlphaMissense 0.06, MetaLR 0.28, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not specified; not provided
- N43K (p.Asn43Lys), ESP rs141679570, ExAC rs141679570, TOPMed rs141679570, gnomAD rs141679570, Uncertain significance, Hereditary cancer-predisposing syndrome
- N43S (p.Asn43Ser), rs2524354966, ClinGen CA340137033, ClinVar RCV002615727, ClinVar RCV003585359, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2; not p
- S44C (p.Ser44Cys), rs2149187418, ClinGen CA340137021, ClinVar RCV001888066, ClinVar RCV005684754, AlphaMissense 0.06, MetaLR 0.72, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- S44N (p.Ser44Asn), rs876659408, ClinGen CA10577749, cosmic curated COSV62743, ClinVar RCV000216955, AlphaMissense 0.09, MetaLR 0.54, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; Familial adenomatous poly
- S44R (p.Ser44Arg), Ensembl rs2149187304, Uncertain significance, Hereditary cancer-predisposing syndrome
- S44T (p.Ser44Thr), rs876659408, ClinGen CA340137018, ClinVar RCV004016745, ClinVar RCV005669895, AlphaMissense 0.09, MetaLR 0.54, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q45* (p.Gln45Ter), rs2524353808, ClinGen CA340137008, ClinVar RCV003049772, NCI-TCGA TCGA novel, Pathogenic
- Q45E (p.Gln45Glu), rs2524353808, ClinGen CA340137009, ClinVar RCV003585667, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q45R (p.Gln45Arg), rs1557491929, ClinGen CA340137003, ClinVar RCV000700034, ClinVar RCV001011004, AlphaMissense 0.06, MetaLR 0.62, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- A46D (p.Ala46Asp), rs2524353140, ClinGen CA340136992, ClinVar RCV004523657, ClinVar RCV004805651, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- A46T (p.Ala46Thr), Ensembl rs2149187208, Uncertain significance, Hereditary cancer-predisposing syndrome
- K47N (p.Lys47Asn), rs375084663, ClinGen CA340136975, ClinVar RCV002255255, ClinVar RCV003614093, AlphaMissense 0.19, MetaLR 0.69, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- K47Q (p.Lys47Gln), rs1645561128, ClinGen CA340136986, ClinVar RCV001212710, ClinVar RCV005672609, AlphaMissense 0.10, MetaLR 0.69, Uncertain significance, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- K47R (p.Lys47Arg), rs757260904, ClinGen CA060270, ClinVar RCV001179408, ClinVar RCV004807341, AlphaMissense 0.07, MetaLR 0.62, Conflicting interpretations, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- K47E (p.Lys47Glu), rs1451314352, gnomAD 1-45329396-T-C, CADD 3.40
- P48S (p.Pro48Ser), NCI-TCGA Cosmic COSV6274, cosmic curated COSV62742, Uncertain significance, Hereditary cancer-predisposing syndrome
- P48T (p.Pro48Thr), rs786203069, ClinGen CA012777, ClinVar RCV000166209, Ensembl rs786203069, AlphaMissense 0.07, MetaLR 0.57, Benign, Hereditary cancer-predisposing syndrome
- P48A (p.Pro48Ala), gnomAD 1-45329423-G-C, CADD 7.51
- S49C (p.Ser49Cys), NCI-TCGA Cosmic COSV1005, cosmic curated COSV10058, NCI-TCGA Cosmic COSV6274, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- S49F (p.Ser49Phe), cosmic curated COSV62744, Ensembl rs2149186919, Likely benign, Hereditary cancer-predisposing syndrome
- S49* (p.Ser49Ter), rs754364718, gnomAD 1-45329401-G-T, AlphaMissense 0.09, MetaLR 0.20
- A50D (p.Ala50Asp), Ensembl rs992146999, Uncertain significance, Hereditary cancer-predisposing syndrome
- A50T (p.Ala50Thr), rs876660488, ClinGen CA10577748, ClinVar RCV000214827, ClinVar RCV000640370, AlphaMissense 0.07, MetaLR 0.50, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- A50V (p.Ala50Val), cosmic curated COSV10525, Ensembl rs992146999, Uncertain significance, Hereditary cancer-predisposing syndrome
- C51F (p.Cys51Phe), rs1476095647, ClinGen CA340136940, ClinVar RCV001524179, ClinVar RCV006467602, AlphaMissense 0.08, MetaLR 0.61, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- C51R (p.Cys51Arg), TOPMed rs1645556603, Uncertain significance, Hereditary cancer-predisposing syndrome
- C51Y (p.Cys51Tyr), rs1476095647, ClinGen CA340136941, ClinVar RCV001898062, gnomAD rs1476095647, AlphaMissense 0.08, MetaLR 0.61, Uncertain significance, Familial adenomatous polyposis 2
- D52G (p.Asp52Gly), rs786202523, ClinGen CA013039, ClinVar RCV000165370, ClinVar RCV000985856, AlphaMissense 0.06, MetaLR 0.58, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided
- D52N (p.Asp52Asn), rs1245520779, ClinGen CA340136935, ClinVar RCV000774811, ClinVar RCV001039548, AlphaMissense 0.07, MetaLR 0.46, Conflicting interpretations, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome
- G53E (p.Gly53Glu), rs587781374, ClinGen CA011699, ClinVar RCV000165078, ClinVar RCV000197171, CADD 13.60, PolyPhen-2 0.14, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; not specified
- G53R (p.Gly53Arg), rs1570463568, ClinGen CA340136925, ClinVar RCV001012251, Ensembl rs1570463568, AlphaMissense 0.08, MetaLR 0.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- G53V (p.Gly53Val), rs587781374, ClinGen CA011708, ClinVar RCV000129189, ClinVar RCV000409275, CADD 16.30, PolyPhen-2 0.21, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Familial adenomatous poly
- M54I (p.Met54Ile), rs2524291407, ClinGen CA340136820, ClinVar RCV002414772, ClinVar RCV003097168, CADD 0.02, PolyPhen-2 0.05, Uncertain significance, Familial adenomatous polyposis 2; Hereditary cancer-predisposing syndrome; Gastr
- M54L (p.Met54Leu), rs1645396759, ClinGen CA340136828, ClinVar RCV003614963, CADD 3.90, PolyPhen-2 0.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- M54R (p.Met54Arg), rs1557487867, ClinGen CA340136824, ClinVar RCV000700078, Ensembl rs1557487867, AlphaMissense 0.06, MetaLR 0.06, Uncertain significance, Familial adenomatous polyposis 2
- M54V (p.Met54Val), rs1645396759, ClinGen CA340136830, ClinVar RCV001184675, Ensembl rs1645396759, CADD 2.84, PolyPhen-2 0.01, Uncertain significance, Hereditary cancer-predisposing syndrome
- I55F (p.Ile55Phe), rs2524291095, ClinGen CA340136816, ClinVar RCV002414864, CADD 4.86, PolyPhen-2 0.48, Uncertain significance, Hereditary cancer-predisposing syndrome
- A56P (p.Ala56Pro), rs1570447125, ClinGen CA340136806, ClinVar RCV000794784, Ensembl rs1570447125, AlphaMissense 0.05, MetaLR 0.03, Uncertain significance, Hereditary cancer-predisposing syndrome
- A56T (p.Ala56Thr), rs1570447125, ClinGen CA340136808, ClinVar RCV003613554, AlphaMissense 0.05, MetaLR 0.03, Benign, Hereditary cancer-predisposing syndrome
- A56V (p.Ala56Val), Ensembl rs2149176967, CADD 3.73, PolyPhen-2 0.04, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- E57* (p.Glu57Ter), rs1557487793, ClinGen CA340136796, ClinVar RCV000706795, ClinVar RCV004026730, CADD 24.80, Pathogenic
- E57G (p.Glu57Gly), rs878854187, ClinGen CA10581813, ClinVar RCV000231159, ClinVar RCV000567365, AlphaMissense 0.06, MetaLR 0.07, Benign, Hereditary cancer-predisposing syndrome
- C58* (p.Cys58Ter), Ensembl rs1645391989
- C58F (p.Cys58Phe), rs1372337348, ClinGen CA340136781, cosmic curated COSV58344, ClinVar RCV001988288, AlphaMissense 0.06, MetaLR 0.04, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 2
- C58Y (p.Cys58Tyr), rs1372337348, ClinGen CA340136784, cosmic curated COSV58344, ClinVar RCV001319272, AlphaMissense 0.06, MetaLR 0.04, Uncertain significance, Familial adenomatous polyposis 2
- P59A (p.Pro59Ala), rs1279830238, ClinGen CA340136775, ClinVar RCV004523664, ClinVar RCV005059517, AlphaMissense 0.06, MetaLR 0.07, Uncertain significance, Hereditary cancer-predisposing syndrome
- P59R (p.Pro59Arg), rs1570446625, ClinGen CA340136771, ClinVar RCV000814087, Ensembl rs1570446625, AlphaMissense 0.07, MetaLR 0.10, Uncertain significance, Familial adenomatous polyposis 2
- P59S (p.Pro59Ser), rs1279830238, ClinGen CA340136773, ClinVar RCV001013379, ClinVar RCV003614066, AlphaMissense 0.06, MetaLR 0.07, Benign, Hereditary cancer-predisposing syndrome
- G60A (p.Gly60Ala), ExAC rs763693540, gnomAD rs763693540, Uncertain significance
Public MUTYH analysis runs
- MUTYH analysis run — MUTYH (1,896 variants) — completed 2026-08-18