SMARCE1 (Q969G3) variants and mutations
SMARCE1 (also known as Q969G3) is a human protein-coding gene encoding a SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 protein. It helps SWI/SNF chromatin-remodeling complexes interact with nucleosomes and transcriptional regulators. Germline loss-of-function variants predispose to clear-cell meningiomas, often presenting at young ages or at multiple sites. This analysis covers 864 SMARCE1 variants and mutations. Of these, 71% have computational variant effect predictions. Disease context includes familial meningioma, Coffin-Siris syndrome, and Inherited cancer-predisposing syndrome. Example SMARCE1 variants include S2L, S6F, and Y7C.
Variant analysis overview
- Gene: SMARCE1
- Protein: Q969G3
- UniProt accession: Q969G3
- Organism: Homo sapiens
- Variants analyzed: 864
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 665 unspecified-consequence records; 7 stop lost; 3 in-frame insertions; 67 synonymous variants; 98 missense variants; 4 stop-gained variants; 5 in-frame deletions; 2 splice-region variants; 10 frameshift variants; 2 stop retained variant; 1 substitution
- Prediction scores: 612 variants have prediction scores (71% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: familial meningioma, Coffin-Siris syndrome, Inherited cancer-predisposing syndrome, hereditary neoplastic syndrome, neurodegenerative disease, meningioma, familial multiple meningioma, Coffin-Siris syndrome 1, endometrial endometrioid adenocarcinoma, hepatobiliary neoplasm, carcinoma of liver and intrahepatic biliary tract, Transitional Meningioma.
Protein structure and variant hotspots
- Protein features: 3 post-translational modification sites.
- PTM context: 8 variants overlap post-translational modification sites.
- Experimental data: 66 protein positions have experimental scores. Source: SMARCE1 High mobility group box domain domainome 1.0.
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 SMARCE1 variants
Examples include S2L, S6F, Y7C, A8T, A8V, P9L, P10L, P10S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- S2L (p.Ser2Leu), cosmic curated COSV62176, REVEL 0.24, CADD 33.00
- S6F (p.Ser6Phe), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10079, Variant assessed as somatic; moderate impact.
- Y7C (p.Tyr7Cys), cosmic curated COSV10943
- A8T (p.Ala8Thr), rs2508617552, ClinGen CA399371001, ClinVar RCV003527541, ClinVar RCV004369377, REVEL 0.33, CADD 28.60, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- A8V (p.Ala8Val), gnomAD rs1280576677, REVEL 0.32, CADD 28.80
- P9L (p.Pro9Leu), rs1415603265, ClinGen CA399370978, ClinVar RCV001921216, ClinVar RCV002425244, REVEL 0.28, CADD 28.60, Conflicting interpretations, Familial meningioma; Hereditary cancer-predisposing syndrome; not provided
- P10L (p.Pro10Leu), rs2508617539, ClinGen CA399370969, ClinVar RCV003328975, REVEL 0.21, CADD 24.60, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- P10S (p.Pro10Ser), rs1413469817, ClinGen CA399370975, ClinVar RCV000704088, gnomAD rs1413469817, REVEL 0.16, CADD 22.40, Uncertain significance, Familial meningioma
- T12P (p.Thr12Pro), rs2037247946, ClinGen CA399370956, ClinVar RCV001195852, ClinVar RCV004033457, AlphaMissense 0.07, MetaLR 0.07, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- P13L (p.Pro13Leu), rs2508617529, ClinGen CA399370934, ClinVar RCV003525741, REVEL 0.27, CADD 32.00, Uncertain significance, Familial meningioma
- P13S (p.Pro13Ser), rs1398882535, ClinGen CA399370938, ClinVar RCV002042641, ClinVar RCV004045995, REVEL 0.26, CADD 26.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- A14T (p.Ala14Thr), rs2508617525, ClinGen CA399370933, ClinVar RCV003638212, Uncertain significance, Familial meningioma
- P15T (p.Pro15Thr), rs2508617523, ClinGen CA399370919, ClinVar RCV003152014, ClinVar RCV004673861, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; Familial meningioma
- A16T (p.Ala16Thr), TOPMed rs1410345162, gnomAD rs1410345162, REVEL 0.11, CADD 18.40
- Q18* (p.Gln18Ter), cosmic curated COSV62177
- Q18L (p.Gln18Leu), TOPMed rs979272847, Uncertain significance, Familial meningioma
- M19I (p.Met19Ile), rs142279746, ClinGen CA8545329, ClinVar RCV000471993, ClinVar RCV001024549, AlphaMissense 0.26, MetaLR 0.11, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial meningioma
- M19T (p.Met19Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P20S (p.Pro20Ser), rs2508613646, ClinGen CA399370021, ClinVar RCV002895364, REVEL 0.19, CADD 23.90, Uncertain significance, Familial meningioma
- S21G (p.Ser21Gly), rs2508613634, ClinGen CA399370012, ClinVar RCV002996802, ClinVar RCV006292285, Uncertain significance, Familial meningioma; Hereditary cancer-predisposing syndrome
- P23A (p.Pro23Ala), gnomAD rs1371633265
- P23R (p.Pro23Arg), rs2144009244, ClinGen CA399369974, ClinVar RCV002267466, ClinVar RCV004047465, AlphaMissense 0.80, MetaLR 0.23, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- G24A (p.Gly24Ala), rs2508613601, ClinGen CA399369963, ClinVar RCV003310811, REVEL 0.33, AlphaMissense 0.99, Uncertain significance, Hereditary cancer-predisposing syndrome
- G24R (p.Gly24Arg), cosmic curated COSV62177, Uncertain significance, Hereditary cancer-predisposing syndrome
- G24V (p.Gly24Val), rs2508613601, ClinGen CA399369960, ClinVar RCV003234341, ClinVar RCV004949054, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome
- G27* (p.Gly27Ter), cosmic curated COSV62177
- Y28H (p.Tyr28His), rs2144009228, ClinGen CA399369915, ClinVar RCV001965415, ClinVar RCV002425298, AlphaMissense 0.98, MetaLR 0.22, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial meningioma
- N29K (p.Asn29Lys), Ensembl rs2144009208, CADD 19.50
- N29S (p.Asn29Ser), rs760888905, ClinGen CA8545325, ClinVar RCV001298741, ClinVar RCV004671320, REVEL 0.12, CADD 23.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- S32G (p.Ser32Gly), rs1162139233, ClinGen CA399369858, ClinVar RCV000802647, gnomAD rs1162139233, REVEL 0.26, AlphaMissense 1.00, Uncertain significance, Familial meningioma
- S32N (p.Ser32Asn), rs1597749777, ClinGen CA399369850, ClinVar RCV001019546, ClinVar RCV001873317, REVEL 0.14, CADD 22.10, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- A35T (p.Ala35Thr), rs968715592, NCI-TCGA Cosmic COSV6217, cosmic curated COSV62177, TOPMed rs968715592, REVEL 0.30, AlphaMissense 0.13, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- Y36C (p.Tyr36Cys), rs767656838, ClinGen CA8545322, ClinVar RCV002667512, ClinVar RCV004673701, REVEL 0.38, CADD 25.70, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- N37S (p.Asn37Ser), rs1597749763, ClinGen CA399369770, ClinVar RCV001017350, ClinVar RCV001208204, REVEL 0.10, CADD 23.90, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial meningioma
- N38S (p.Asn38Ser), rs915901827, ClinGen CA290557478, ClinVar RCV001009988, ClinVar RCV003638732, REVEL 0.07, CADD 22.50, Conflicting interpretations, Familial meningioma; Hereditary cancer-predisposing syndrome
- N38Y (p.Asn38Tyr), rs2508613527, ClinGen CA399369753, ClinVar RCV003171196, ClinVar RCV004593225, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome
- Y39C (p.Tyr39Cys), rs2508613520, ClinGen CA399369731, ClinVar RCV003323198, ClinVar RCV003525389, REVEL 0.25, CADD 28.30, Uncertain significance, not provided; Familial meningioma; Hereditary cancer-predisposing syndrome
- Y39H (p.Tyr39His), gnomAD rs1418428626, REVEL 0.24, CADD 25.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- R40K (p.Arg40Lys), rs2508613516, ClinGen CA399369716, ClinVar RCV003835007, Uncertain significance, Familial meningioma
- R40S (p.Arg40Ser), rs2508613514, ClinGen CA399369708, ClinVar RCV003062191, ClinVar RCV005281300, Uncertain significance, Familial meningioma; Hereditary cancer-predisposing syndrome
- N44K (p.Asn44Lys), rs570462841, ClinGen CA399369644, ClinVar RCV001325872, ClinVar RCV004951550, REVEL 0.18, CADD 22.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- N44T (p.Asn44Thr), rs761846539, ClinGen CA8545321, ClinVar RCV001057296, ClinVar RCV002379572, REVEL 0.13, CADD 22.60, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial meningioma
- P45A (p.Pro45Ala), rs1597749741, ClinGen CA399369632, ClinVar RCV003526574, AlphaMissense 0.11, MetaLR 0.18, Uncertain significance, Familial meningioma
- P45L (p.Pro45Leu), rs1249552995, ClinGen CA399369626, cosmic curated COSV10526, ClinVar RCV001210558, REVEL 0.31, CADD 22.70, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- P45S (p.Pro45Ser), rs1597749741, ClinGen CA399369629, NCI-TCGA Cosmic COSV6217, cosmic curated COSV62177, REVEL 0.27, AlphaMissense 0.11, Uncertain significance, Familial meningioma; Hereditary cancer-predisposing syndrome
- G46D (p.Gly46Asp), rs2037209184, ClinGen CA399369612, ClinVar RCV001316777, Ensembl rs2037209184, REVEL 0.19, CADD 23.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- G46S (p.Gly46Ser), Ensembl rs11548762
- T47A (p.Thr47Ala), gnomAD rs2037209154, REVEL 0.07, CADD 22.20
- N48D (p.Asn48Asp), rs2508613475, ClinGen CA399369589, ClinVar RCV003382142, Uncertain significance, Hereditary cancer-predisposing syndrome
- N48K (p.Asn48Lys), cosmic curated COSV62176, REVEL 0.17, CADD 23.20
- S49N (p.Ser49Asn), TOPMed rs2037209126, gnomAD rs2037209126, REVEL 0.13, CADD 21.30
- R50G (p.Arg50Gly), rs2037209097, ClinGen CA399369551, ClinVar RCV002026442, TOPMed rs2037209097, AlphaMissense 0.77, MetaLR 0.15, Uncertain significance, Familial meningioma
- R50Q (p.Arg50Gln), rs1060501394, ClinGen CA16615629, cosmic curated COSV62176, ClinVar RCV000466477, REVEL 0.34, CADD 23.10, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- V51A (p.Val51Ala), rs1597749716, ClinGen CA399369528, ClinVar RCV001012030, Ensembl rs1597749716, REVEL 0.04, CADD 22.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- V51F (p.Val51Phe), rs1555606273, ClinGen CA399369535, ClinVar RCV003463564, REVEL 0.20, AlphaMissense 0.14, Uncertain significance, Familial meningioma
- V51G (p.Val51Gly), rs1597749716, ClinGen CA399369526, ClinVar RCV001233241, Ensembl rs1597749716, REVEL 0.12, CADD 22.70, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- V51I (p.Val51Ile), rs1555606273, ClinGen CA399369538, ClinVar RCV000564205, Ensembl rs1555606273, AlphaMissense 0.14, MetaLR 0.10, Uncertain significance, Hereditary cancer-predisposing syndrome
- T52M (p.Thr52Met), rs909376128, ClinGen CA290557465, ClinVar RCV001367847, ClinVar RCV006287425, REVEL 0.13, CADD 23.90, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- S55C (p.Ser55Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G56S (p.Gly56Ser), rs2508606789, ClinGen CA399368012, ClinVar RCV003527524, ClinVar RCV004369371, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- I57F (p.Ile57Phe), rs2143999604, ClinGen CA399367996, ClinVar RCV001892853, Ensembl rs2143999604, AlphaMissense 0.79, MetaLR 0.81, Uncertain significance, Familial meningioma
- T58M (p.Thr58Met), rs1353575590, ClinGen CA399367972, NCI-TCGA Cosmic COSV6217, cosmic curated COSV62177, REVEL 0.40, CADD 26.00, Uncertain significance, Familial meningioma; Hereditary cancer-predisposing syndrome
- I59F (p.Ile59Phe), rs2143999589, ClinGen CA399367957, ClinVar RCV001991161, ClinVar RCV002398045, REVEL 0.34, CADD 26.90, Uncertain significance, Familial meningioma; Hereditary cancer-predisposing syndrome
- K61N (p.Lys61Asn), Ensembl rs12103928, REVEL 0.49, CADD 24.20
- P63S (p.Pro63Ser), cosmic curated COSV10079
- K64M (p.Lys64Met), cosmic curated COSV10886
- P65Q (p.Pro65Gln), TOPMed rs1268952356, REVEL 0.44, CADD 27.40
- D67E (p.Asp67Glu), rs2508606741, ClinGen CA399367843, ClinVar RCV003391374, Uncertain significance, SMARCE1-related disorder
- D67G (p.Asp67Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D67H (p.Asp67His), cosmic curated COSV10943
- L70M (p.Leu70Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- M71V (p.Met71Val), Ensembl rs2037158446
- Y73C (p.Tyr73Cys), rs387906857, ClinGen CA206873, cosmic curated COSV62176, ClinVar RCV000023251, AlphaMissense 1.00, MetaLR 0.98, Likely pathogenic, Familial meningioma
- Y73H (p.Tyr73His), Ensembl rs62066644
- Y73S (p.Tyr73Ser), rs387906857, ClinGen CA10576104, ClinVar RCV000211089, UniProt VAR 076932, AlphaMissense 1.00, MetaLR 0.98, Pathogenic, Coffin-Siris syndrome 5
- R75G (p.Arg75Gly), rs2508606702, ClinGen CA399367751, ClinVar RCV003233427, Uncertain significance, not provided
- Y76* (p.Tyr76Ter), NCI-TCGA Cosmic COSV1007, cosmic curated COSV10079, Variant assessed as somatic; high impact.
- Y76C (p.Tyr76Cys), rs1555605893, ClinGen CA399367732, ClinVar RCV000623351, Ensembl rs1555605893, AlphaMissense 1.00, MetaLR 0.98, Likely pathogenic, Inborn genetic diseases
- S77G (p.Ser77Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q83R (p.Gln83Arg), rs2508604703, ClinGen CA2582342168, ClinVar RCV003382146, Uncertain significance, Familial meningioma
- V84I (p.Val84Ile), rs2508604696, ClinGen CA399367551, ClinVar RCV002432926, Uncertain significance, Hereditary cancer-predisposing syndrome
- S87A (p.Ser87Ala), Ensembl rs2037147368
- S87P (p.Ser87Pro), cosmic curated COSV52861
- N88D (p.Asn88Asp), NCI-TCGA Cosmic COSV5286, cosmic curated COSV52861, REVEL 0.93, CADD 27.30, Variant assessed as somatic; moderate impact.
- N88S (p.Asn88Ser), rs1163711259, ClinGen CA399367492, ClinVar RCV003526516, TOPMed rs1163711259, REVEL 0.90, CADD 25.80, Uncertain significance, Familial meningioma
- P89L (p.Pro89Leu), rs2508604686, ClinGen CA399367474, ClinVar RCV003318024, Uncertain significance, not provided
- D90E (p.Asp90Glu), TOPMed rs2037147230
- D90H (p.Asp90His), NCI-TCGA Cosmic COSV5286, Variant assessed as somatic; moderate impact.
- D90N (p.Asp90Asn), rs2508604680, ClinGen CA399367469, ClinVar RCV003525438, cosmic curated COSV10806, Uncertain significance, Familial meningioma
- D90Y (p.Asp90Tyr), cosmic curated COSV52860
- K92N (p.Lys92Asn), rs1555605795, ClinGen CA399367436, ClinVar RCV000677665, Ensembl rs1555605795, AlphaMissense 1.00, MetaLR 0.90, Likely pathogenic, Coffin-Siris syndrome 5
- K92Q (p.Lys92Gln), rs2143997424, ClinGen CA399367448, ClinVar RCV001816201, Ensembl rs2143997424, AlphaMissense 1.00, MetaLR 0.95, Likely pathogenic, not provided
- L93F (p.Leu93Phe), rs2037147129, ClinGen CA399367422, ClinVar RCV001246188, Ensembl rs2037147129, AlphaMissense 1.00, MetaLR 0.87, Uncertain significance, Familial meningioma
- W94R (p.Trp94Arg), rs1085307924, ClinGen CA399367413, ClinVar RCV000489341, Ensembl rs1085307924, AlphaMissense 1.00, MetaLR 0.94, Likely pathogenic, not provided
- E95* (p.Glu95Ter), cosmic curated COSV10458
- K98R (p.Lys98Arg), TOPMed rs1386395578
- I100F (p.Ile100Phe), rs2508604637, ClinGen CA399367303, ClinVar RCV002297820, Uncertain significance, Familial meningioma
- G101A (p.Gly101Ala), cosmic curated COSV52861, Ensembl rs2037147008, Uncertain significance
- G101D (p.Gly101Asp), rs2037147008, ClinGen CA399367285, ClinVar RCV001232072, ClinVar RCV005492974, AlphaMissense 1.00, MetaLR 0.98, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- G101R (p.Gly101Arg), rs2143997384, ClinGen CA399367290, ClinVar RCV001773812, Ensembl rs2143997384, AlphaMissense 1.00, MetaLR 0.99, Uncertain significance, not provided
- G101S (p.Gly101Ser), rs2143997384, ClinGen CA399367291, ClinVar RCV003025897, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, Familial meningioma
- M103I (p.Met103Ile), TOPMed rs1293539431, Uncertain significance, Hereditary cancer-predisposing syndrome
- W104* (p.Trp104Ter), rs397509407, ClinGen CA143948, ClinVar RCV000049255, Ensembl rs397509407, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic
- W104R (p.Trp104Arg), rs2143997365, ClinGen CA399367242, ClinVar RCV001526653, ClinVar RCV006254278, AlphaMissense 1.00, MetaLR 0.99, Pathogenic, Tessier cleft
- W104S (p.Trp104Ser), rs397509407, ClinGen CA16620402, ClinVar RCV000479805, Ensembl rs397509407, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, not provided
- R105* (p.Arg105Ter), rs1060501395, ClinGen CA16615351, ClinVar RCV000466082, Ensembl rs1060501395, Pathogenic
- R105Q (p.Arg105Gln), rs2037146907, ClinGen CA399367222, NCI-TCGA Cosmic COSV9922, cosmic curated COSV99228, AlphaMissense 1.00, MetaLR 0.89, Pathogenic/Likely pathogenic, Coffin-Siris syndrome 5; not provided; Familial meningioma
- L107F (p.Leu107Phe), TOPMed rs1555605789, Uncertain significance
- L107V (p.Leu107Val), rs1555605789, ClinGen CA399367193, ClinVar RCV000658188, TOPMed rs1555605789, AlphaMissense 1.00, MetaLR 0.98, Uncertain significance, not provided
- T108A (p.Thr108Ala), rs2508604586, ClinGen CA399367181, ClinVar RCV004508450, Uncertain significance, Hereditary cancer-predisposing syndrome
- D109G (p.Asp109Gly), rs2143997323, ClinGen CA399367152, ClinVar RCV002042755, Ensembl rs2143997323, AlphaMissense 0.98, MetaLR 0.95, Uncertain significance, Familial meningioma
- D109N (p.Asp109Asn), Ensembl rs2143997329
- E110* (p.Glu110Ter), rs2143997316, ClinGen CA399367132, ClinVar RCV001983042, ClinVar RCV002324410, AlphaMissense 0.95, MetaLR 0.91, Pathogenic
- E110D (p.Glu110Asp), rs372964610, ClinGen CA8545270, ClinVar RCV001368064, ESP rs372964610, AlphaMissense 0.37, MetaLR 0.83, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- E110K (p.Glu110Lys), rs2143997316, ClinGen CA399367137, ClinVar RCV002039813, Ensembl rs2143997316, REVEL 0.67, AlphaMissense 0.95, Uncertain significance, Familial meningioma
- E111G (p.Glu111Gly), rs2037146794, ClinGen CA399367110, ClinVar RCV001342308, ClinVar RCV002322283, REVEL 0.93, CADD 29.20, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- E111Q (p.Glu111Gln), rs878854601, ClinGen CA10583542, ClinVar RCV000231191, ClinVar RCV002321872, REVEL 0.71, CADD 24.30, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- Q113K (p.Gln113Lys), rs2143997301, ClinGen CA399367077, ClinVar RCV001361207, ClinVar RCV004951607, AlphaMissense 0.97, MetaLR 0.83, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- Q113R (p.Gln113Arg), NCI-TCGA Cosmic COSV5286, cosmic curated COSV52860, Variant assessed as somatic; moderate impact.
- E114* (p.Glu114Ter), rs2037146773, ClinGen CA399367060, ClinVar RCV001226002, Ensembl rs2037146773, Pathogenic
- E114V (p.Glu114Val), rs2508604552, ClinGen CA399367055, ClinVar RCV004508451, Uncertain significance, Hereditary cancer-predisposing syndrome
- L116V (p.Leu116Val), rs2508604537, NCI-TCGA Cosmic COSV5286, cosmic curated COSV52860, ClinGen CA399367024, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- E118K (p.Glu118Lys), rs1131691457, ClinGen CA399366993, NCI-TCGA Cosmic COSV5286, cosmic curated COSV52860, REVEL 0.61, CADD 24.80, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Familial meningioma
- Y119* (p.Tyr119Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- Y119N (p.Tyr119Asn), cosmic curated COSV52861
- E120* (p.Glu120Ter), NCI-TCGA Cosmic COSV5286, NCI-TCGA Cosmic COSV9922, cosmic curated COSV99228, Variant assessed as somatic; high impact.
- E120K (p.Glu120Lys), cosmic curated COSV52861, Pathogenic, not provided
- A121T (p.Ala121Thr), cosmic curated COSV52860
- E122G (p.Glu122Gly), rs2508604513, ClinGen CA399366900, ClinVar RCV003640327, Uncertain significance, Familial meningioma
- I124L (p.Ile124Leu), rs2508603830, ClinGen CA399366813, ClinVar RCV002348991, Uncertain significance, Hereditary cancer-predisposing syndrome
- I124V (p.Ile124Val), rs2508603830, ClinGen CA399366814, ClinVar RCV003639300, ClinVar RCV005734615, REVEL 0.36, CADD 22.80, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- E125* (p.Glu125Ter), cosmic curated COSV99228
- E125Q (p.Glu125Gln), rs762580699, ClinGen CA8545252, ClinVar RCV001041536, ClinVar RCV005732252, REVEL 0.71, CADD 24.30, Uncertain significance, Familial meningioma; Hereditary cancer-predisposing syndrome
- Y126D (p.Tyr126Asp), rs2508603823, ClinGen CA399366783, ClinVar RCV003640292, Pathogenic, Familial meningioma
- N127S (p.Asn127Ser), rs2143996566, ClinGen CA399366769, NCI-TCGA Cosmic COSV5286, cosmic curated COSV52861, AlphaMissense 0.20, MetaLR 0.94, Uncertain significance, Familial meningioma
- E128K (p.Glu128Lys), cosmic curated COSV52861
- S129F (p.Ser129Phe), ExAC rs769255223, TOPMed rs769255223, gnomAD rs769255223, Uncertain significance
- S129Y (p.Ser129Tyr), rs769255223, ClinGen CA8545250, ClinVar RCV001218245, ExAC rs769255223, REVEL 0.71, CADD 24.60, Uncertain significance, Familial meningioma
- M130L (p.Met130Leu), Ensembl rs2143996528, Uncertain significance
- M130V (p.Met130Val), rs2143996528, ClinGen CA399366739, cosmic curated COSV52861, ClinVar RCV001934389, AlphaMissense 0.55, MetaLR 0.82, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- K131M (p.Lys131Met), Ensembl rs2143996522
- K131N (p.Lys131Asn), Ensembl rs2143996514
- A132T (p.Ala132Thr), rs2037143424, ClinGen CA399366709, ClinVar RCV002357607, ClinVar RCV003638829, REVEL 0.47, CADD 22.60, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- A132V (p.Ala132Val), rs2508603789, ClinGen CA399366704, ClinVar RCV003526657, Uncertain significance, Familial meningioma
- Y133C (p.Tyr133Cys), rs2143996507, ClinGen CA399366697, ClinVar RCV001363509, Ensembl rs2143996507, AlphaMissense 1.00, MetaLR 0.97, Uncertain significance, Familial meningioma
- H134Y (p.His134Tyr), NCI-TCGA Cosmic COSV5286, cosmic curated COSV52861, Variant assessed as somatic; moderate impact.
- N135K (p.Asn135Lys), TOPMed rs888304315, gnomAD rs888304315, Likely benign
- S136A (p.Ser136Ala), Ensembl rs538476076, REVEL 0.67, CADD 24.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- S136F (p.Ser136Phe), Ensembl rs2143996476
- P137L (p.Pro137Leu), Ensembl rs2143996459
- P137S (p.Pro137Ser), rs2143996465, ClinGen CA399366654, ClinVar RCV001900631, ClinVar RCV002324268, AlphaMissense 0.94, MetaLR 0.91, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- A138R (p.Ala138Arg), rs2508603762, ClinGen CA2580093781, ClinVar RCV002323481, Pathogenic
- A138T (p.Ala138Thr), rs771308672, ClinGen CA8545247, ClinVar RCV000570816, ClinVar RCV000688644, REVEL 0.25, CADD 22.40, Conflicting interpretations, not provided; Familial meningioma; Coffin-Siris syndrome 5
- A138V (p.Ala138Val), rs747470831, ClinGen CA8545246, cosmic curated COSV10806, ClinVar RCV002333120, REVEL 0.31, CADD 23.20, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial meningioma
- Y139* (p.Tyr139Ter), rs1555605752, ClinGen CA399366628, ClinVar RCV000568108, Ensembl rs1555605752, Pathogenic
- L140F (p.Leu140Phe), cosmic curated COSV10586, TOPMed rs2037143183
- A141T (p.Ala141Thr), rs2037143160, ClinGen CA399366618, ClinVar RCV001338084, ClinVar RCV002329304, AlphaMissense 0.89, MetaLR 0.41, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- Y142F (p.Tyr142Phe), rs1567847087, ClinGen CA399366601, ClinVar RCV001995659, ClinVar RCV005729659, REVEL 0.17, CADD 23.10, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- I143M (p.Ile143Met), NCI-TCGA Cosmic COSV5286, cosmic curated COSV52861, REVEL 0.10, CADD 18.50, Variant assessed as somatic; moderate impact.
- I143V (p.Ile143Val), rs772432672, ClinGen CA8545244, ClinVar RCV001022199, ClinVar RCV001058011, REVEL 0.03, CADD 20.00, Conflicting interpretations, Hereditary cancer-predisposing syndrome; Familial meningioma
- K146R (p.Lys146Arg), ExAC rs748318573, gnomAD rs748318573, REVEL 0.17, CADD 27.30
- S147N (p.Ser147Asn), rs779169160, ClinGen CA8545242, ClinVar RCV000525835, ClinVar RCV005732121, REVEL 0.09, CADD 20.20, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- R148C (p.Arg148Cys), rs147065057, ClinGen CA290553167, cosmic curated COSV52861, ClinVar RCV001345420, REVEL 0.40, CADD 31.00, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma
- R148G (p.Arg148Gly), ESP rs147065057, Uncertain significance
- R148H (p.Arg148His), rs755039445, ClinGen CA8545241, NCI-TCGA Cosmic COSV5286, cosmic curated COSV52860, REVEL 0.22, CADD 22.70, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Familial meningioma
- A149S (p.Ala149Ser), Ensembl rs2143996334
- A149V (p.Ala149Val), rs2037142942, ClinGen CA399366524, ClinVar RCV001219270, Ensembl rs2037142942, AlphaMissense 0.98, MetaLR 0.23, Uncertain significance, Familial meningioma
- E150G (p.Glu150Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E150K (p.Glu150Lys), Ensembl rs2143996320
- A151V (p.Ala151Val), cosmic curated COSV10635, Ensembl rs2143996302
- A152G (p.Ala152Gly), ExAC rs781231331, gnomAD rs781231331, Uncertain significance
- A152S (p.Ala152Ser), Ensembl rs2143996282
- A152T (p.Ala152Thr), Ensembl rs2143996282
- A152V (p.Ala152Val), rs781231331, ClinGen CA8545239, ClinVar RCV001022694, ClinVar RCV001340069, REVEL 0.24, CADD 25.20, Uncertain significance, Hereditary cancer-predisposing syndrome; Familial meningioma; not provided
- E154D (p.Glu154Asp), rs2143996251, ClinGen CA399366470, ClinVar RCV001892836, Ensembl rs2143996251, REVEL 0.15, CADD 22.70, Uncertain significance, Familial meningioma
- E156G (p.Glu156Gly), rs2508603626, ClinGen CA399366450, ClinVar RCV003526652, Uncertain significance, Familial meningioma
- S157I (p.Ser157Ile), cosmic curated COSV52861
- S157R (p.Ser157Arg), Ensembl rs2143996233
- R158* (p.Arg158Ter), rs1251821702, ClinGen CA399366430, NCI-TCGA Cosmic COSV5286, cosmic curated COSV52860, CADD 37.00, Pathogenic
- R158L (p.Arg158Leu), rs757138170, ClinGen CA399366427, ClinVar RCV003872546, REVEL 0.25, CADD 23.10, Uncertain significance, Familial meningioma
Public SMARCE1 analysis runs
- SMARCE1 analysis run — SMARCE1 (864 variants) — completed 2026-08-18