BMPR1A (P36894) variants and mutations
BMPR1A (also known as P36894) is a human protein-coding gene encoding a bone morphogenetic protein receptor type-1A protein. It transduces BMP signals that regulate epithelial growth, differentiation, and tissue patterning through SMAD proteins and other pathways. Germline loss-of-function variants cause juvenile polyposis syndrome and can substantially increase gastrointestinal cancer risk. This analysis covers 1,427 BMPR1A variants and mutations. Of these, 74% have computational variant effect predictions. Disease context includes juvenile polyposis syndrome, hereditary mixed polyposis syndrome, and generalized juvenile polyposis/juvenile polyposis coli. Example BMPR1A variants include M1?, M1I, and M1L.
Variant analysis overview
- Gene: BMPR1A
- Protein: P36894
- UniProt accession: P36894
- Organism: Homo sapiens
- Variants analyzed: 1427
- Variant scope: all variants
- Completed: 2026-08-21
Variant and mutation evidence
- Variant composition: 1,282 unspecified-consequence records; 90 synonymous variants; 37 missense variants; 2 stop-gained variants; 4 splice-region variants; 2 frameshift variants; 6 in-frame deletions; 1 in-frame insertions; 3 substitution
- Prediction scores: 1,056 variants have prediction scores (74% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: juvenile polyposis syndrome, hereditary mixed polyposis syndrome, generalized juvenile polyposis/juvenile polyposis coli, Inherited cancer-predisposing syndrome, hereditary neoplastic syndrome, bone disorder, familial colorectal cancer type X, neurodegenerative disease, colorectal cancer, tibia fracture, hepatobiliary neoplasm, breast ductal adenocarcinoma.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 2 domains; 2 binding sites; 1 post-translational modification sites.
- Structural context: 856 variants have structural context.
- PTM context: 1 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 BMPR1A variants
Examples include M1?, M1I, M1L, M1V, P2A, P2L, P2R, P2S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- M1I (p.Met1Ile), rs869312758, ClinGen CA353511, ClinVar RCV000210125, ClinVar RCV003335228, MetaLR 0.45, MetaSVM -0.29, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- M1L (p.Met1Leu), rs786203157, ClinGen CA377774739, ClinVar RCV000492794, ClinVar RCV003335404, MetaLR 0.39, MetaSVM -0.39, Pathogenic/Likely pathogenic, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- M1V (p.Met1Val), rs786203157, ClinGen CA195612, ClinVar RCV000166343, ClinVar RCV002228592, MetaLR 0.39, MetaSVM -0.39, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- P2A (p.Pro2Ala), 1000Genomes rs11528010, ESP rs11528010, ExAC rs11528010, TOPMed rs11528010, Benign
- P2L (p.Pro2Leu), rs143248687, ClinGen CA298499, ClinVar RCV000562590, ClinVar RCV000588955, REVEL 0.24, CADD 21.20, Conflicting interpretations, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not provid
- P2R (p.Pro2Arg), rs143248687, ClinGen CA5585404, ClinVar RCV002848194, ClinVar RCV003585303, REVEL 0.26, CADD 20.40, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome; not provid
- P2S (p.Pro2Ser), rs11528010, ClinGen CA377774747, ClinVar RCV001210826, ClinVar RCV003473757, REVEL 0.24, CADD 16.30, Uncertain significance, Polyposis syndrome, hereditary mixed, 2; Hereditary cancer-predisposing syndrome
- P2T (p.Pro2Thr), rs11528010, ClinGen CA157462, ClinVar RCV000034703, ClinVar RCV000120253, REVEL 0.21, CADD 11.70, Benign, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not specif
- P2P (p.Pro2Pro), gnomAD 10-86876024-T-C, CADD 9.59
- Q3E (p.Gln3Glu), rs1589757055, ClinGen CA377774750, ClinVar RCV000817603, ClinVar RCV004949995, AlphaMissense 0.08, MetaLR 0.33, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- Q3H (p.Gln3His), rs1589757057, ClinGen CA377774755, ClinVar RCV001230986, ClinVar RCV001773524, REVEL 0.19, CADD 15.50, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Juvenile polyposis syndro
- Q3P (p.Gln3Pro), rs1554886804, ClinGen CA377774752, ClinVar RCV000580930, ClinVar RCV005601019, AlphaMissense 0.06, MetaLR 0.31, Uncertain significance, Hereditary cancer-predisposing syndrome; Generalized juvenile polyposis/juvenile
- Q3R (p.Gln3Arg), NCI-TCGA TCGA novel, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- Q3Q (p.Gln3Gln), rs1589757057, gnomAD 10-86876027-G-A, CADD 5.25
- L4I (p.Leu4Ile), gnomAD 10-86876028-C-A, REVEL 0.18, CADD 16.70
- L4L (p.Leu4Leu), gnomAD 10-86876030-A-T, CADD 0.22
- Y5* (p.Tyr5Ter), rs1392086533, ClinGen CA377774769, ClinVar RCV003762609, ClinVar RCV004999991, Pathogenic
- Y5Y (p.Tyr5Tyr), rs1392086533, gnomAD 10-86876033-C-T, CADD 1.86
- I6V (p.Ile6Val), rs1842917141, ClinGen CA377774771, ClinVar RCV001213055, ClinVar RCV002402632, AlphaMissense 0.07, MetaLR 0.27, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Y7C (p.Tyr7Cys), rs993642453, ClinGen CA211238807, ClinVar RCV003331838, ClinVar RCV006613021, REVEL 0.20, AlphaMissense 0.09, Uncertain significance, not specified; Juvenile polyposis syndrome
- Y7F (p.Tyr7Phe), rs993642453, ClinGen CA377774780, ClinVar RCV001178782, Ensembl rs993642453, AlphaMissense 0.09, MetaLR 0.33, Uncertain significance, Hereditary cancer-predisposing syndrome
- Y7H (p.Tyr7His), rs762926643, ClinGen CA5585405, ClinVar RCV000582252, ClinVar RCV002232712, REVEL 0.18, CADD 16.90, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Y7S (p.Tyr7Ser), rs993642453, ClinGen CA377774779, ClinVar RCV002991485, AlphaMissense 0.09, MetaLR 0.33, Uncertain significance, Juvenile polyposis syndrome
- Y7Y (p.Tyr7Tyr), rs2133321194, gnomAD 10-86876039-C-T, CADD 2.15
- I8F (p.Ile8Phe), rs863224719, ClinGen CA377774784, ClinVar RCV002428466, ClinVar RCV003763168, AlphaMissense 0.10, MetaLR 0.34, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- I8S (p.Ile8Ser), rs2539350498, ClinGen CA377774787, ClinVar RCV002430672, Uncertain significance, Hereditary cancer-predisposing syndrome
- I8V (p.Ile8Val), rs863224719, ClinGen CA335860, ClinVar RCV000195699, ClinVar RCV000214029, REVEL 0.12, AlphaMissense 0.10, Conflicting interpretations, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not provid
- I8I (p.Ile8Ile), rs1554886810, gnomAD 10-86876042-C-T, CADD 10.20
- R9* (p.Arg9Ter), rs1564710631, ClinGen CA377774789, ClinVar RCV002426220, ClinVar RCV003336741, Pathogenic
- R9K (p.Arg9Lys), rs766269417, ClinGen CA377774792, ClinVar RCV002302880, ClinVar RCV002454623, AlphaMissense 0.11, MetaLR 0.28, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- R9T (p.Arg9Thr), rs766269417, ClinGen CA5585406, ClinVar RCV000523833, ClinVar RCV002456005, AlphaMissense 0.11, MetaLR 0.28, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Juvenile polyposis syndro
- R9R (p.Arg9Arg), rs751420248, gnomAD 10-86876045-A-G, CADD 6.87
- L10F (p.Leu10Phe), rs754752449, ClinGen CA377774801, ClinVar RCV003384171, REVEL 0.18, CADD 17.60, Uncertain significance, Hereditary cancer-predisposing syndrome
- L10S (p.Leu10Ser), rs2133321352, ClinGen CA377774798, ClinVar RCV002003776, Ensembl rs2133321352, AlphaMissense 0.40, MetaLR 0.42, Uncertain significance, Juvenile polyposis syndrome
- L10* (p.Leu10Ter), gnomAD 10-86876047-T-A, CADD 36.00
- L10L (p.Leu10Leu), rs754752449, gnomAD 10-86876048-A-G, CADD 9.47
- L11W (p.Leu11Trp), rs1842917459, ClinGen CA377774806, ClinVar RCV001300413, Ensembl rs1842917459, REVEL 0.46, CADD 23.10, Uncertain significance, Juvenile polyposis syndrome
- L11L (p.Leu11Leu), rs535411352, gnomAD 10-86876051-G-A, CADD 8.62
- G12* (p.Gly12Ter), Ensembl rs1842917526, Uncertain significance
- G12E (p.Gly12Glu), rs1589757087, ClinGen CA377774812, ClinVar RCV001020687, ClinVar RCV003473588, AlphaMissense 0.55, MetaLR 0.32, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; Polyposis
- G12R (p.Gly12Arg), rs1842917526, ClinGen CA377774809, ClinVar RCV001237036, Ensembl rs1842917526, REVEL 0.43, CADD 23.20, Uncertain significance, Juvenile polyposis syndrome
- A13G (p.Ala13Gly), rs754015069, ClinGen CA5585408, ClinVar RCV001021385, ClinVar RCV001318382, REVEL 0.19, CADD 18.90, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; Polyposis
- A13P (p.Ala13Pro), rs200115604, ClinGen CA377774816, ClinVar RCV003763260, AlphaMissense 0.10, MetaLR 0.34, Uncertain significance, Juvenile polyposis syndrome
- A13S (p.Ala13Ser), rs200115604, ClinGen CA377774815, ClinVar RCV002363960, ClinVar RCV006558965, AlphaMissense 0.10, MetaLR 0.34, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- A13T (p.Ala13Thr), rs200115604, ClinGen CA10582739, ClinVar RCV000572173, ClinVar RCV001349975, REVEL 0.25, AlphaMissense 0.10, Conflicting interpretations, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- A13V (p.Ala13Val), rs754015069, ClinGen CA377774818, ClinVar RCV001971899, ClinVar RCV002352605, REVEL 0.24, CADD 14.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- A13A (p.Ala13Ala), gnomAD 10-86876057-C-G, CADD 9.94
- Y14C (p.Tyr14Cys), rs2133321618, ClinGen CA377774823, ClinVar RCV001903192, ClinVar RCV002331418, AlphaMissense 0.09, MetaLR 0.24, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Y14N (p.Tyr14Asn), rs2539350832, ClinGen CA377774819, ClinVar RCV004516716, Uncertain significance, Hereditary cancer-predisposing syndrome
- L15F (p.Leu15Phe), rs2133321682, ClinGen CA377774832, ClinVar RCV001526241, ClinVar RCV001873696, AlphaMissense 0.14, MetaLR 0.34, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- L15L (p.Leu15Leu), rs2133321682, gnomAD 10-86876063-G-A, AlphaMissense 0.14, MetaLR 0.34
- F16C (p.Phe16Cys), rs151235720, ClinGen CA298502, ClinVar RCV000159833, ESP rs151235720, AlphaMissense 0.19, MetaLR 0.32, Uncertain significance, not provided
- F16Y (p.Phe16Tyr), rs151235720, ClinGen CA5585409, ClinVar RCV001222063, ClinVar RCV002339588, REVEL 0.14, AlphaMissense 0.19, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- I17L (p.Ile17Leu), rs778886055, ClinGen CA5585410, ClinVar RCV000216319, ClinVar RCV000701225, REVEL 0.20, CADD 13.60, Conflicting interpretations, Juvenile polyposis syndrome; not specified; Hereditary cancer-predisposing syndr
- I17V (p.Ile17Val), ExAC rs778886055, TOPMed rs778886055, gnomAD rs778886055, REVEL 0.14, CADD 10.40, Uncertain significance
- I17F (p.Ile17Phe), gnomAD 10-86876067-A-T, REVEL 0.41, CADD 17.10
- I17N (p.Ile17Asn), gnomAD 10-86876068-T-A, REVEL 0.45, CADD 22.40
- I18M (p.Ile18Met), rs2539351056, ClinGen CA377774851, ClinVar RCV002351663, Uncertain significance, Hereditary cancer-predisposing syndrome
- I18T (p.Ile18Thr), rs745920240, ClinGen CA5585411, ClinVar RCV002241785, ClinVar RCV002348815, REVEL 0.20, CADD 17.50, Conflicting interpretations, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- S19F (p.Ser19Phe), rs1842917942, ClinGen CA377774857, ClinVar RCV001191978, ClinVar RCV001364377, REVEL 0.11, CADD 14.40, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- R20C (p.Arg20Cys), rs1472397694, ClinGen CA377774860, ClinVar RCV000553756, ClinVar RCV000580767, REVEL 0.12, CADD 14.40, Uncertain significance, Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis syndrome; Hereditary
- R20H (p.Arg20His), rs759014147, ClinGen CA348993, ClinVar RCV000213165, ClinVar RCV002228947, REVEL 0.14, AlphaMissense 0.11, Conflicting interpretations, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not specif
- R20L (p.Arg20Leu), rs759014147, ClinGen CA377774861, NCI-TCGA Cosmic COSV1009, NCI-TCGA Cosmic COSV6440, AlphaMissense 0.11, MetaLR 0.23, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- R20R (p.Arg20Arg), rs780704079, gnomAD 10-86876078-T-C, CADD 9.36
- V21A (p.Val21Ala), rs2133321901, ClinGen CA377774867, ClinVar RCV003238440, ClinVar RCV003761430, AlphaMissense 0.42, MetaLR 0.30, Uncertain significance, not provided; Juvenile polyposis syndrome
- Q22* (p.Gln22Ter), rs1554886821, ClinGen CA377774871, NCI-TCGA Cosmic COSV1009, ClinVar RCV000521828, AlphaMissense 0.09, MetaLR 0.32, Pathogenic
- Q22E (p.Gln22Glu), rs1554886821, ClinGen CA377774870, ClinVar RCV001025342, ClinVar RCV001295998, REVEL 0.16, AlphaMissense 0.09, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Q22H (p.Gln22His), rs786204152, ClinGen CA334351, ClinVar RCV000168143, ClinVar RCV000758776, REVEL 0.15, CADD 22.40, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q22P (p.Gln22Pro), rs747437716, ClinGen CA5585413, ClinVar RCV000480437, ClinVar RCV002230940, REVEL 0.42, CADD 20.70, Conflicting interpretations, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not provid
- G23E (p.Gly23Glu), NCI-TCGA Cosmic COSV1007, Variant assessed as somatic; moderate impact.
- G23R (p.Gly23Arg), rs1131691171, ClinGen CA377774875, ClinVar RCV000494227, Ensembl rs1131691171, AlphaMissense 0.59, MetaLR 0.56, Likely pathogenic, Polyposis syndrome, hereditary mixed, 2
- G23G (p.Gly23Gly), rs780227469, gnomAD 10-86890063-A-G, CADD 15.00
- Q24L (p.Gln24Leu), rs1163365235, ClinGen CA377446219, ClinVar RCV001804292, gnomAD rs1163365235, AlphaMissense 0.14, MetaLR 0.38, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q24R (p.Gln24Arg), rs1163365235, ClinGen CA377446217, ClinVar RCV001176903, ClinVar RCV001208739, REVEL 0.47, AlphaMissense 0.14, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; Polyposis
- Q24Q (p.Gln24Gln), rs752141538, gnomAD 10-86890066-G-A, CADD 9.61
- N25S (p.Asn25Ser), rs1060503410, ClinGen CA16613192, ClinVar RCV000463279, ClinVar RCV000487317, REVEL 0.25, AlphaMissense 0.24, Conflicting interpretations, Juvenile polyposis syndrome; not provided; Polyposis syndrome, hereditary mixed
- N25T (p.Asn25Thr), rs1060503410, ClinGen CA377446231, ClinVar RCV001974341, TOPMed rs1060503410, AlphaMissense 0.24, MetaLR 0.33, Uncertain significance, Juvenile polyposis syndrome
- N25K (p.Asn25Lys), gnomAD 10-86890069-T-G, REVEL 0.19, CADD 22.80
- L26P (p.Leu26Pro), 1000Genomes rs200307579, Uncertain significance, Hereditary cancer-predisposing syndrome
- L26V (p.Leu26Val), rs2539429870, ClinGen CA377446240, ClinVar RCV003762546, REVEL 0.25, CADD 21.60, Uncertain significance, Juvenile polyposis syndrome
- D27G (p.Asp27Gly), rs1589763296, ClinGen CA377446254, ClinVar RCV002235136, ClinVar RCV002415933, AlphaMissense 0.36, MetaLR 0.53, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- D27N (p.Asp27Asn), rs1430886611, ClinGen CA377446246, ClinVar RCV004516730, ClinVar RCV006488708, REVEL 0.30, CADD 23.20, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- D27Y (p.Asp27Tyr), rs1430886611, ClinGen CA377446249, ClinVar RCV000819692, ClinVar RCV002415926, REVEL 0.59, CADD 29.80, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Juvenile polyposis syndro
- S28G (p.Ser28Gly), rs1170582171, ClinGen CA377446265, ClinVar RCV001804614, ClinVar RCV001869523, REVEL 0.16, CADD 22.60, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- S28N (p.Ser28Asn), rs371904636, ClinGen CA336464, ClinVar RCV000196492, ClinVar RCV000483899, REVEL 0.25, CADD 21.60, Conflicting interpretations, Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis syndrome; Hereditary
- M29I (p.Met29Ile), rs2133394364, ClinGen CA377446293, ClinVar RCV002373710, ClinGen CA377446297, AlphaMissense 0.57, MetaLR 0.35, Uncertain significance, Hereditary cancer-predisposing syndrome
- M29T (p.Met29Thr), rs2133394352, ClinGen CA377446290, ClinVar RCV001986532, Ensembl rs2133394352, AlphaMissense 0.44, MetaLR 0.40, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- M29V (p.Met29Val), rs2539430075, ClinGen CA377446281, ClinVar RCV002296676, REVEL 0.09, CADD 15.70, Uncertain significance, Juvenile polyposis syndrome
- L30F (p.Leu30Phe), rs2539430162, ClinGen CA377446303, ClinVar RCV002886038, Uncertain significance, Juvenile polyposis syndrome
- L30P (p.Leu30Pro), rs1194403044, ClinGen CA377446308, ClinVar RCV002376336, REVEL 0.26, AlphaMissense 0.42, Uncertain significance, Hereditary cancer-predisposing syndrome
- L30R (p.Leu30Arg), rs1194403044, ClinGen CA377446310, ClinVar RCV000580173, ClinVar RCV001853865, AlphaMissense 0.42, MetaLR 0.55, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- L30L (p.Leu30Leu), rs1564714758, gnomAD 10-86890084-T-C, CADD 9.76
- H31P (p.His31Pro), rs1589763313, ClinGen CA377446323, ClinVar RCV000793903, ClinVar RCV001180744, AlphaMissense 0.22, MetaLR 0.42, Uncertain significance, Juvenile polyposis syndrome; not provided; Hereditary cancer-predisposing syndro
- H31Q (p.His31Gln), rs1461705514, ClinGen CA377446325, ClinVar RCV001019278, ClinVar RCV001061484, REVEL 0.24, CADD 11.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- H31R (p.His31Arg), rs1589763313, ClinGen CA377446319, ClinVar RCV001370459, ClinVar RCV003478803, REVEL 0.30, AlphaMissense 0.22, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Juvenile polyposis syndro
- H31Y (p.His31Tyr), gnomAD 10-86890085-C-T, REVEL 0.35, CADD 22.90
- G32D (p.Gly32Asp), rs1843125149, ClinGen CA377446339, ClinVar RCV001315956, ClinVar RCV004951509, REVEL 0.33, CADD 23.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- G32R (p.Gly32Arg), rs755462552, ClinGen CA5585430, ClinVar RCV000461457, ClinVar RCV000522769, REVEL 0.29, CADD 22.20, Conflicting interpretations, Juvenile polyposis syndrome; Polyposis syndrome, hereditary mixed, 2; Hereditary
- G32G (p.Gly32Gly), gnomAD 10-86890090-C-G, CADD 6.48
- T33A (p.Thr33Ala), rs748515167, ClinGen CA5585432, ClinVar RCV000552227, ClinVar RCV000565843, REVEL 0.24, CADD 21.00, Conflicting interpretations, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not specif
- T33I (p.Thr33Ile), rs142454490, ClinGen CA377446356, ClinVar RCV003596436, ClinVar RCV005251364, REVEL 0.35, CADD 24.40, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- T33S (p.Thr33Ser), rs142454490, ClinGen CA5585433, ClinVar RCV000467157, ClinVar RCV000569418, REVEL 0.26, CADD 19.50, Conflicting interpretations, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; BMPR1A-rel
- G34A (p.Gly34Ala), rs730881430, ClinGen CA298505, ClinVar RCV000159834, ClinVar RCV000213466, REVEL 0.18, AlphaMissense 0.15, Uncertain significance, BMPR1A-related disorder; Juvenile polyposis syndrome; Hereditary cancer-predispo
- G34E (p.Gly34Glu), rs730881430, ClinGen CA377446371, ClinVar RCV002377990, ClinVar RCV006616827, AlphaMissense 0.15, MetaLR 0.36, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- G34R (p.Gly34Arg), rs1589763328, ClinGen CA377446366, ClinVar RCV001175943, ClinVar RCV002234809, REVEL 0.37, AlphaMissense 0.25, Uncertain significance, Polyposis syndrome, hereditary mixed, 2; Hereditary cancer-predisposing syndrome
- G34W (p.Gly34Trp), rs1589763328, ClinGen CA377446368, ClinVar RCV002025327, ClinVar RCV002441152, AlphaMissense 0.25, MetaLR 0.45, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- M35I (p.Met35Ile), rs1564714776, Ensembl rs1564714776, ClinGen CA377446403, ClinVar RCV000772959, AlphaMissense 0.38, MetaLR 0.36, Uncertain significance, Hereditary cancer-predisposing syndrome
- M35K (p.Met35Lys), rs2133394661, ClinGen CA377446388, ClinVar RCV002018508, Ensembl rs2133394661, REVEL 0.35, AlphaMissense 0.39, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- M35R (p.Met35Arg), rs2133394661, ClinGen CA377446393, ClinVar RCV002974878, AlphaMissense 0.39, MetaLR 0.31, Uncertain significance, Juvenile polyposis syndrome
- M35T (p.Met35Thr), rs2133394661, ClinGen CA377446390, ClinVar RCV002046627, Ensembl rs2133394661, AlphaMissense 0.39, MetaLR 0.31, Uncertain significance, Juvenile polyposis syndrome
- M35V (p.Met35Val), rs1043850286, ClinGen CA211182728, ClinVar RCV001315274, ClinVar RCV002395673, REVEL 0.16, CADD 12.60, Conflicting interpretations, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; Polyposis
- K36T (p.Lys36Thr), rs1564714779, ClinGen CA377446416, ClinVar RCV000776991, ClinVar RCV001869115, AlphaMissense 0.20, MetaLR 0.60, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- D38E (p.Asp38Glu), rs1021443408, ClinGen CA211182733, ClinVar RCV000573226, ClinVar RCV000822318, REVEL 0.19, CADD 16.40, Uncertain significance, Juvenile polyposis syndrome; not specified; Hereditary cancer-predisposing syndr
- D38G (p.Asp38Gly), rs2539430825, ClinGen CA2580082071, ClinVar RCV002320687, Uncertain significance, Hereditary cancer-predisposing syndrome
- D38H (p.Asp38His), rs1554888103, ClinGen CA377446452, ClinVar RCV000580814, ClinVar RCV001297003, REVEL 0.33, AlphaMissense 0.17, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- D38R (p.Asp38Arg), rs2539430767, ClinGen CA2580082070, ClinVar RCV002437923, ClinVar RCV003336752, Pathogenic
- D38Y (p.Asp38Tyr), rs1554888103, ClinGen CA377446449, ClinVar RCV003762594, AlphaMissense 0.17, MetaLR 0.33, Uncertain significance, Juvenile polyposis syndrome
- S39F (p.Ser39Phe), rs876658859, ClinGen CA10578873, ClinVar RCV000223454, ClinVar RCV000808348, AlphaMissense 0.15, MetaLR 0.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome; Polyposis
- S39Y (p.Ser39Tyr), rs876658859, ClinGen CA377446479, ClinVar RCV000580363, Ensembl rs876658859, AlphaMissense 0.15, MetaLR 0.30, Uncertain significance, Hereditary cancer-predisposing syndrome
- S39S (p.Ser39Ser), rs757333646, gnomAD 10-86890111-C-T, CADD 3.63
- D40A (p.Asp40Ala), rs1060503403, ClinGen CA16612967, ClinVar RCV000463813, ClinVar RCV000561127, REVEL 0.21, AlphaMissense 0.16, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not provid
- D40E (p.Asp40Glu), rs1843125913, ClinGen CA377446507, ClinVar RCV001177711, ClinVar RCV006629247, REVEL 0.18, CADD 7.35, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- D40G (p.Asp40Gly), rs1060503403, ClinGen CA377446498, ClinVar RCV002234486, ClinVar RCV002343238, REVEL 0.21, AlphaMissense 0.16, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- D40H (p.Asp40His), rs587781556, ClinGen CA377446492, ClinVar RCV001010237, ClinVar RCV001363982, AlphaMissense 0.16, MetaLR 0.40, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- D40N (p.Asp40Asn), rs587781556, ClinGen CA164691, ClinVar RCV000129572, ClinVar RCV000464702, REVEL 0.09, AlphaMissense 0.16, Conflicting interpretations, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not provid
- D40V (p.Asp40Val), rs1060503403, ClinGen CA377446506, ClinVar RCV001914916, TOPMed rs1060503403, AlphaMissense 0.16, MetaLR 0.37, Uncertain significance, Juvenile polyposis syndrome
- D40Y (p.Asp40Tyr), rs587781556, ClinGen CA377446490, ClinVar RCV002028240, ClinVar RCV002346261, AlphaMissense 0.16, MetaLR 0.40, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- Q41* (p.Gln41Ter), rs2539431082, ClinGen CA377446515, ClinVar RCV003596945, Pathogenic
- Q41R (p.Gln41Arg), rs1363945274, ClinGen CA377446521, ClinVar RCV001945985, TOPMed rs1363945274, REVEL 0.22, CADD 17.70, Uncertain significance, Juvenile polyposis syndrome
- K42E (p.Lys42Glu), rs786203156, ClinGen CA195606, ClinVar RCV000166341, ClinVar RCV000635485, REVEL 0.26, CADD 22.00, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not provid
- K42K (p.Lys42Lys), rs773814289, gnomAD 10-86890120-A-G, CADD 7.26
- K43M (p.Lys43Met), rs2539431097, ClinGen CA2580082076, ClinVar RCV002376529, ClinVar RCV003458860, Pathogenic
- K43N (p.Lys43Asn), rs1843126055, ClinGen CA377446567, ClinVar RCV001065884, ClinVar RCV002379596, MetaLR 0.40, MetaSVM -0.39, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- K43R (p.Lys43Arg), rs2133395088, ClinGen CA377446561, ClinVar RCV001977112, Ensembl rs2133395088, MetaLR 0.26, MetaSVM -0.86, Uncertain significance, Juvenile polyposis syndrome
- K43T (p.Lys43Thr), rs2133395088, ClinGen CA377446560, ClinVar RCV003596965, REVEL 0.29, MetaLR 0.26, Uncertain significance, Juvenile polyposis syndrome
- K43K (p.Lys43Lys), rs1843126055, gnomAD 10-86890123-G-A, MetaLR 0.40, MetaSVM -0.39
- S44P (p.Ser44Pro), rs2133395138, ClinGen CA377446575, ClinVar RCV001978488, Ensembl rs2133395138, MetaLR 0.19, MetaSVM -0.97, Uncertain significance, Juvenile polyposis syndrome
- S44V (p.Ser44Val), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- S44S (p.Ser44Ser), rs1554888111, gnomAD 10-86890126-A-C, CADD 10.80
- E45G (p.Glu45Gly), rs1564714807, ClinGen CA377446596, ClinVar RCV000697948, ClinVar RCV001183317, REVEL 0.20, CADD 22.40, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- E45K (p.Glu45Lys), rs1554888112, ClinGen CA377446593, ClinVar RCV000536243, Ensembl rs1554888112, MetaLR 0.39, MetaSVM -0.57, Uncertain significance, Juvenile polyposis syndrome
- N46K (p.Asn46Lys), rs2133395262, ClinGen CA377446625, ClinVar RCV001987176, Ensembl rs2133395262, MetaLR 0.31, MetaSVM -0.77, Uncertain significance, Juvenile polyposis syndrome
- N46S (p.Asn46Ser), Ensembl rs1589763371, REVEL 0.22, CADD 15.60, Uncertain significance, Hereditary cancer-predisposing syndrome
- N46T (p.Asn46Thr), gnomAD 10-86890131-A-C, REVEL 0.24, CADD 18.10
- G47* (p.Gly47Ter), rs1564714809, ClinGen CA377446629, ClinVar RCV002233157, Ensembl rs1564714809, Pathogenic
- G47E (p.Gly47Glu), rs368595543, ClinGen CA196132, ClinVar RCV000166542, ClinVar RCV001358778, REVEL 0.35, CADD 23.90, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome; not provid
- G47V (p.Gly47Val), rs368595543, ClinGen CA5585437, ClinVar RCV000478286, ClinVar RCV001059290, REVEL 0.33, CADD 24.20, Uncertain significance, Juvenile polyposis syndrome; not provided; Hereditary cancer-predisposing syndro
- V48I (p.Val48Ile), rs775188308, ClinGen CA5585438, ClinVar RCV002392033, ClinVar RCV003095149, REVEL 0.18, CADD 19.80, Uncertain significance, not provided; Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis syndro
- T49I (p.Thr49Ile), rs1589763385, ClinGen CA377446669, ClinVar RCV001011755, ClinVar RCV002549345, MetaLR 0.41, MetaSVM -0.50, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- T49N (p.Thr49Asn), Ensembl rs1589763385, Uncertain significance
- L50S (p.Leu50Ser), rs2539431638, ClinGen CA377446680, ClinVar RCV003596901, Uncertain significance, Juvenile polyposis syndrome
- L50V (p.Leu50Val), rs964544915, ClinGen CA377446676, ClinVar RCV002389678, ClinVar RCV003597441, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- L50L (p.Leu50Leu), rs964544915, gnomAD 10-86890142-T-C, CADD 11.10
- A51T (p.Ala51Thr), rs1554888117, ClinGen CA377446690, ClinVar RCV000566608, ClinVar RCV002232192, REVEL 0.33, CADD 22.80, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not provid
- A51V (p.Ala51Val), Ensembl rs2133395466, Uncertain significance, Juvenile polyposis syndrome
- A51A (p.Ala51Ala), gnomAD 10-86890147-A-C, CADD 9.13
- E53G (p.Glu53Gly), rs1554888120, ClinGen CA377446747, ClinVar RCV000572940, Ensembl rs1554888120, MetaLR 0.41, MetaSVM -0.43, Uncertain significance, Hereditary cancer-predisposing syndrome
- E53K (p.Glu53Lys), rs1554888119, ClinGen CA377446740, ClinVar RCV000580074, ClinVar RCV001853864, REVEL 0.42, CADD 23.40, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- E53Q (p.Glu53Gln), gnomAD rs1554888119, Uncertain significance
- D54H (p.Asp54His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D54N (p.Asp54Asn), rs1843126765, ClinGen CA377446759, ClinVar RCV001317727, ClinVar RCV001806115, MetaLR 0.39, MetaSVM -0.54, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- D54V (p.Asp54Val), rs1554888124, ClinGen CA377446765, ClinVar RCV001805767, ClinVar RCV002233993, MetaLR 0.38, MetaSVM -0.50, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- D54Y (p.Asp54Tyr), rs1843126765, ClinGen CA377446757, ClinVar RCV003763368, MetaLR 0.39, MetaSVM -0.54, Uncertain significance, Juvenile polyposis syndrome
- D54E (p.Asp54Glu), gnomAD 10-86890156-T-A, REVEL 0.52, CADD 12.60
- T55A (p.Thr55Ala), rs1843126824, ClinGen CA377446775, ClinVar RCV001234232, ClinVar RCV002393590, MetaLR 0.29, MetaSVM -0.64, Uncertain significance, Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- T55I (p.Thr55Ile), rs1843126856, ClinGen CA377446790, ClinVar RCV001207115, ClinVar RCV005782107, REVEL 0.30, CADD 21.50, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- T55T (p.Thr55Thr), rs1180486494, gnomAD 10-86890159-C-T, CADD 7.60
- L56F (p.Leu56Phe), rs1589763414, ClinGen CA377446806, ClinVar RCV001012744, ClinVar RCV002234210, REVEL 0.39, CADD 22.20, Uncertain significance, Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- L56W (p.Leu56Trp), rs1554888125, ClinGen CA377446803, ClinVar RCV002234481, Ensembl rs1554888125, MetaLR 0.53, MetaSVM 0.02, Uncertain significance, Juvenile polyposis syndrome
- L56V (p.Leu56Val), gnomAD 10-86890160-T-G, REVEL 0.12, CADD 14.70
- P57A (p.Pro57Ala), Ensembl rs2133395751
- P57R (p.Pro57Arg), rs1057517610, ClinGen CA16042120, ClinVar RCV000494075, ClinVar RCV001358782, REVEL 0.36, CADD 19.30, Uncertain significance, Juvenile polyposis syndrome; Polyposis syndrome, hereditary mixed, 2; Hereditary
- P57S (p.Pro57Ser), rs2133395751, ClinGen CA377446823, ClinVar RCV003872522, REVEL 0.31, MetaLR 0.41, Uncertain significance, Juvenile polyposis syndrome
- P57T (p.Pro57Thr), rs2133395751, ClinGen CA377446829, ClinVar RCV003079971, MetaLR 0.41, MetaSVM -0.47, Uncertain significance, Juvenile polyposis syndrome
- F58C (p.Phe58Cys), rs1843127298, ClinGen CA377446868, ClinVar RCV001222559, Ensembl rs1843127298, MetaLR 0.63, MetaSVM 0.27, Uncertain significance, Juvenile polyposis syndrome
- F58L (p.Phe58Leu), rs2539432228, ClinGen CA377446848, ClinVar RCV002407411, Uncertain significance, Hereditary cancer-predisposing syndrome
- F58Y (p.Phe58Tyr), rs1843127298, ClinGen CA377446864, NCI-TCGA Cosmic COSV6313, ClinVar RCV001182337, MetaLR 0.63, MetaSVM 0.27, Uncertain significance, Hereditary cancer-predisposing syndrome
- F58F (p.Phe58Phe), rs1554888126, gnomAD 10-86890168-T-C, CADD 13.20
- L59* (p.Leu59Ter), rs1564714834, ClinGen CA377446894, ClinVar RCV000755041, ClinVar RCV001013096, Pathogenic
Public BMPR1A analysis runs
- BMPR1A analysis run — BMPR1A (1,427 variants) — completed 2026-08-21