SMARCB1 (Q12824) variants and mutations
SMARCB1 (also known as Q12824) is a human protein-coding gene encoding a SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 protein. Within SWI/SNF complexes, it constrains oncogenic transcription and supports normal chromatin regulation. Biallelic tumor-cell inactivation is characteristic of malignant rhabdoid tumors, while germline variants predispose to rhabdoid tumors or schwannomatosis. This analysis covers 1,425 SMARCB1 variants and mutations. Of these, 38% have computational variant effect predictions. Disease context includes rhabdoid tumor predisposition syndrome 1, schwannomatosis, and SMARCB1-related schwannomatosis. Example SMARCB1 variants include M1L, M1V, and M2I.
Variant analysis overview
- Gene: SMARCB1
- Protein: Q12824
- UniProt accession: Q12824
- Organism: Homo sapiens
- Variants analyzed: 1425
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 1,302 unspecified-consequence records; 1 5 prime utr variant; 32 missense variants; 78 synonymous variants; 5 splice-region variants; 5 frameshift variants; 2 in-frame deletions
- Prediction scores: 544 variants have prediction scores (38% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: rhabdoid tumor predisposition syndrome 1, schwannomatosis, SMARCB1-related schwannomatosis, familial rhabdoid tumor, intellectual disability, autosomal dominant 15, rhabdoid tumor, Coffin-Siris syndrome, hereditary neoplastic syndrome, Inherited cancer-predisposing syndrome, neurodegenerative disease, atypical teratoid rhabdoid tumor, meningioma.
Protein structure and variant hotspots
- Protein features: 1 post-translational modification sites.
- PTM context: 6 variants overlap post-translational modification sites.
- Experimental data: 66 protein positions have experimental scores. Source: SMARCB1 SNF5/SMARCB1/INI1 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 SMARCB1 variants
Examples include M1L, M1V, M2I, M2R, M2V, M3I, M3K, M3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1L (p.Met1Leu), rs367768260, ClinGen CA410930336, ClinVar RCV003548011, ClinVar RCV004950398, MetaLR 0.72, MetaSVM 0.30, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome
- M1V (p.Met1Val), rs367768260, ClinGen CA162159, ClinVar RCV000122071, ClinVar RCV000456257, MetaLR 0.72, MetaSVM 0.30, Conflicting interpretations, SMARCB1-related schwannomatosis; Intellectual disability, autosomal dominant 15
- M2I (p.Met2Ile), rs2517652401, ClinGen CA410930363, ClinVar RCV003559439, ClinVar RCV005495579, CADD 24.50, PolyPhen-2 0.00, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome
- M2R (p.Met2Arg), rs2517652396, ClinGen CA410930362, ClinVar RCV002305204, Uncertain significance, not provided
- M2V (p.Met2Val), rs2145951889, ClinGen CA410930352, ClinVar RCV002009280, Ensembl rs2145951889, AlphaMissense 0.17, MetaLR 0.61, Uncertain significance, not provided
- M3I (p.Met3Ile), ExAC rs748542371, gnomAD rs748542371, CADD 24.20, PolyPhen-2 0.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- M3K (p.Met3Lys), rs2517652412, ClinGen CA410930374, ClinVar RCV003559891, Uncertain significance, not provided
- M3L (p.Met3Leu), Ensembl rs2145951892, CADD 23.00, PolyPhen-2 0.00
- M3V (p.Met3Val), gnomAD 22-23787176-A-G, CADD 23.60, PolyPhen-2 0.00
- M4L (p.Met4Leu), rs772433022, ClinGen CA10145814, ClinVar RCV003038640, ExAC rs772433022, CADD 22.90, PolyPhen-2 0.00, Uncertain significance, not provided
- M4T (p.Met4Thr), rs371477865, ClinGen CA10145815, ClinVar RCV001349744, ClinVar RCV002350653, CADD 23.20, PolyPhen-2 0.01, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome; SMARCB1-related schwannom
- p.Met4dup, gnomAD 22-23787169-A-AAT, CADD 20.50
- M4V (p.Met4Val), gnomAD 22-23787179-A-G, CADD 23.70, PolyPhen-2 0.00
- A5P (p.Ala5Pro), rs1928040877, ClinGen CA410930427, ClinVar RCV001769383, Ensembl rs1928040877, AlphaMissense 0.40, MetaLR 0.85, Uncertain significance, not provided
- A5S (p.Ala5Ser), rs1928040877, ClinGen CA410930435, ClinVar RCV003686185, AlphaMissense 0.40, MetaLR 0.85, Uncertain significance, not provided
- A5T (p.Ala5Thr), cosmic curated COSV53156, Ensembl rs1928040877, AlphaMissense 0.40, MetaLR 0.85, Uncertain significance
- A5V (p.Ala5Val), rs1568933235, ClinGen CA410930454, ClinVar RCV001371361, ClinVar RCV004678800, CADD 23.70, PolyPhen-2 0.23, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome
- A5E (p.Ala5Glu), gnomAD 22-23787183-C-A, CADD 25.00, PolyPhen-2 0.74
- A5A (p.Ala5Ala), rs747587445, gnomAD 22-23787184-G-C, CADD 15.90
- L6V (p.Leu6Val), rs2517652477, ClinGen CA410930481, ClinVar RCV003214668, Uncertain significance, Hereditary cancer-predisposing syndrome
- L6M (p.Leu6Met), gnomAD 22-23787185-C-A, CADD 23.80, PolyPhen-2 0.85
- L6L (p.Leu6Leu), gnomAD 22-23787185-C-T, CADD 13.30
- L6P (p.Leu6Pro), gnomAD 22-23787186-T-C, CADD 24.20, PolyPhen-2 0.72
- L6Q (p.Leu6Gln), gnomAD 22-23787186-T-A, CADD 31.00, PolyPhen-2 0.74
- S7C (p.Ser7Cys), Ensembl rs2145951949, Uncertain significance, Hereditary cancer-predisposing syndrome
- S7I (p.Ser7Ile), rs1928042033, ClinGen CA410930501, ClinVar RCV002424200, AlphaMissense 0.43, MetaLR 0.69, Uncertain significance, Hereditary cancer-predisposing syndrome
- S7N (p.Ser7Asn), rs1928042033, ClinGen CA410930495, ClinVar RCV001340833, ClinVar RCV005493019, AlphaMissense 0.43, MetaLR 0.69, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- S7R (p.Ser7Arg), ExAC rs771334931, gnomAD rs771334931, CADD 24.90, PolyPhen-2 0.43, Uncertain significance, Hereditary cancer-predisposing syndrome
- S7T (p.Ser7Thr), gnomAD 22-23787189-G-C, CADD 23.30, PolyPhen-2 0.15
- K8E (p.Lys8Glu), rs2145951968, ClinGen CA410930515, ClinVar RCV001883804, Ensembl rs2145951968, CADD 25.70, PolyPhen-2 0.44, Uncertain significance, not provided
- K8N (p.Lys8Asn), NCI-TCGA Cosmic COSV5315, cosmic curated COSV53157, Ensembl rs2145951974, CADD 31.00, PolyPhen-2 0.78, Likely benign
- K8R (p.Lys8Arg), rs2517652533, ClinGen CA410930530, ClinVar RCV002459644, ClinVar RCV004694235, CADD 23.30, PolyPhen-2 0.04, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- T9S (p.Thr9Ser), rs2517652557, ClinVar RCV004573664, CADD 25.10, PolyPhen-2 0.31, Uncertain significance, Rhabdoid tumor predisposition syndrome 1
- T9T (p.Thr9Thr), rs776259216, gnomAD 22-23787196-C-T, CADD 14.70
- F10F (p.Phe10Phe), rs1247300129, gnomAD 22-23787199-C-T, CADD 16.10
- G11R (p.Gly11Arg), rs1555875308, ClinGen CA410930583, ClinVar RCV000522979, ClinVar RCV001260856, AlphaMissense 1.00, MetaLR 0.86, Conflicting interpretations, Intellectual disability; not provided
- G11G (p.Gly11Gly), gnomAD 22-23787202-G-A, CADD 15.60
- Q12* (p.Gln12Ter), rs74315513, ClinGen CA119228, ClinVar RCV000008490, ClinVar RCV003278655, Pathogenic
- Q12P (p.Gln12Pro), rs2517652580, ClinGen CA410930609, ClinVar RCV002455174, Uncertain significance, Hereditary cancer-predisposing syndrome
- Q12R (p.Gln12Arg), rs2517652580, ClinGen CA410930605, ClinVar RCV002455178, ClinVar RCV003546766, Uncertain significance, not provided; Hereditary cancer-predisposing syndrome
- Q12K (p.Gln12Lys), gnomAD 22-23787203-C-A, CADD 23.00, PolyPhen-2 0.00
- P14H (p.Pro14His), rs2517652605, ClinGen CA410930644, ClinVar RCV002327850, ClinVar RCV003102538, CADD 29.10, PolyPhen-2 1.00, Pathogenic/Likely pathogenic, not provided; Hereditary cancer-predisposing syndrome
- P14S (p.Pro14Ser), gnomAD 22-23787209-C-T, CADD 27.20, PolyPhen-2 1.00
- P14T (p.Pro14Thr), gnomAD 22-23787209-C-A, CADD 26.60, PolyPhen-2 1.00
- P14P (p.Pro14Pro), rs1285048687, gnomAD 22-23787211-C-T, CADD 15.00
- V15A (p.Val15Ala), rs1928044034, ClinGen CA410930677, ClinVar RCV001067822, Ensembl rs1928044034, AlphaMissense 0.20, MetaLR 0.66, Uncertain significance, not provided
- V15L (p.Val15Leu), rs1379787699, ClinGen CA410930659, ClinVar RCV002333740, TOPMed rs1379787699, CADD 23.10, PolyPhen-2 0.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- V15M (p.Val15Met), rs1379787699, ClinGen CA410930655, ClinVar RCV003719586, ClinVar RCV006292444, CADD 23.40, PolyPhen-2 0.07, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- V15V (p.Val15Val), rs759056710, gnomAD 22-23787214-G-T, CADD 14.80
- K16Q (p.Lys16Gln), Ensembl rs1928044503, CADD 24.00, PolyPhen-2 0.33
- K16E (p.Lys16Glu), gnomAD 22-23787215-A-G, CADD 23.10, PolyPhen-2 0.11
- K16K (p.Lys16Lys), rs2145952051, gnomAD 22-23787217-G-A, CADD 14.90
- F17L (p.Phe17Leu), gnomAD 22-23787218-T-C, CADD 32.00, PolyPhen-2 1.00
- F17F (p.Phe17Phe), gnomAD 22-23787220-C-T, CADD 15.30
- Q18* (p.Gln18Ter), rs1928044707, ClinGen CA410930729, NCI-TCGA Cosmic COSV5315, cosmic curated COSV53157, Pathogenic
- Q18H (p.Gln18His), rs1220062951, ClinGen CA410930745, ClinVar RCV002020668, gnomAD rs1220062951, AlphaMissense 0.79, MetaLR 0.69, Uncertain significance, not provided
- Q18R (p.Gln18Arg), gnomAD 22-23787222-A-G, CADD 22.50, PolyPhen-2 0.29
- Q18Q (p.Gln18Gln), rs1220062951, gnomAD 22-23787223-G-A, AlphaMissense 0.79, MetaLR 0.69
- L19M (p.Leu19Met), Ensembl rs977028798, Likely benign
- L19L (p.Leu19Leu), rs977028798, gnomAD 22-23787224-C-T, CADD 14.10
- E20A (p.Glu20Ala), rs2145952083, ClinGen CA410930788, ClinVar RCV002003514, Ensembl rs2145952083, CADD 25.20, PolyPhen-2 0.42, Uncertain significance, not provided
- E20G (p.Glu20Gly), gnomAD 22-23787228-A-G, CADD 33.00, PolyPhen-2 0.42
- E20E (p.Glu20Glu), gnomAD 22-23787229-G-A, CADD 12.90
- E20D (p.Glu20Asp), gnomAD 22-23787229-G-T, CADD 21.10, PolyPhen-2 0.01
- D21E (p.Asp21Glu), NCI-TCGA Cosmic COSV9930, cosmic curated COSV99303, Variant assessed as somatic; moderate impact.
- D21G (p.Asp21Gly), rs2145952092, ClinGen CA410930819, ClinVar RCV001590348, ClinVar RCV004946725, CADD 24.80, PolyPhen-2 0.27, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- D21N (p.Asp21Asn), rs1601382598, ClinGen CA410930807, ClinVar RCV001025002, ClinVar RCV001362384, CADD 25.20, PolyPhen-2 0.30, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- D21D (p.Asp21Asp), gnomAD 22-23787232-C-T, CADD 11.90
- D22G (p.Asp22Gly), cosmic curated COSV53157
- D22N (p.Asp22Asn), rs1417899723, ClinGen CA410930832, cosmic curated COSV53155, ClinVar RCV000800215, CADD 22.60, PolyPhen-2 0.00, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- D22E (p.Asp22Glu), gnomAD 22-23787235-C-G, CADD 22.60, PolyPhen-2 0.00
- G23D (p.Gly23Asp), rs1601382621, ClinGen CA410930846, ClinVar RCV001025784, ClinVar RCV001373774, CADD 27.70, PolyPhen-2 0.99, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- G23R (p.Gly23Arg), TOPMed rs1287987691, gnomAD rs1287987691, CADD 32.00, PolyPhen-2 0.99, Uncertain significance
- G23S (p.Gly23Ser), rs1287987691, ClinGen CA410930842, ClinVar RCV001042293, ClinVar RCV002363582, CADD 26.40, PolyPhen-2 0.84, Uncertain significance, Hereditary cancer-predisposing syndrome; SMARCB1-related disorder; not provided
- G23V (p.Gly23Val), gnomAD 22-23787237-G-T, CADD 27.80, PolyPhen-2 0.99
- G23G (p.Gly23Gly), rs769604673, gnomAD 22-23787238-C-G, CADD 14.50
- E24A (p.Glu24Ala), rs2145952118, ClinGen CA410930865, ClinVar RCV001368317, ClinVar RCV002377544, AlphaMissense 0.53, MetaLR 0.82, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- E24D (p.Glu24Asp), cosmic curated COSV53157, CADD 15.10, PolyPhen-2 0.01
- E24K (p.Glu24Lys), rs1601382640, ClinGen CA410930857, ClinVar RCV001026037, ClinVar RCV001862351, CADD 26.20, PolyPhen-2 0.31, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- E24Q (p.Glu24Gln), NCI-TCGA Cosmic COSV5315, cosmic curated COSV53155, Uncertain significance, Hereditary cancer-predisposing syndrome
- E24E (p.Glu24Glu), gnomAD 22-23787241-G-A, CADD 9.07
- F25L (p.Phe25Leu), cosmic curated COSV10583, NCI-TCGA Cosmic COSV5315, cosmic curated COSV53156, CADD 23.10, PolyPhen-2 0.00, Uncertain significance, Hereditary cancer-predisposing syndrome
- F25S (p.Phe25Ser), rs2145952130, ClinGen CA410930896, ClinVar RCV002029265, ClinVar RCV003289390, CADD 23.30, PolyPhen-2 0.04, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- F25V (p.Phe25Val), rs1928046958, ClinGen CA410930894, ClinVar RCV002384884, TOPMed rs1928046958, AlphaMissense 0.36, MetaLR 0.58, Uncertain significance, Hereditary cancer-predisposing syndrome
- Y26H (p.Tyr26His), Ensembl rs866039663, CADD 25.80, PolyPhen-2 0.04
- Y26C (p.Tyr26Cys), gnomAD 22-23787246-A-G, CADD 32.00, PolyPhen-2 0.85
- Y26Y (p.Tyr26Tyr), rs374962941, gnomAD 22-23787247-C-T, CADD 13.90
- M27L (p.Met27Leu), rs762676176, ClinGen CA10145822, ClinVar RCV001345457, ClinVar RCV002420424, CADD 23.30, PolyPhen-2 0.03, Uncertain significance, not provided; Intellectual disability, autosomal dominant 15; Rhabdoid tumor pre
- M27R (p.Met27Arg), rs763994045, ClinGen CA410930957, ClinVar RCV001040176, ClinVar RCV005732250, AlphaMissense 0.98, MetaLR 0.72, Likely pathogenic, Hereditary cancer-predisposing syndrome; not provided
- M27T (p.Met27Thr), ExAC rs763994045, gnomAD rs763994045, AlphaMissense 0.98, MetaLR 0.72, Uncertain significance, Hereditary cancer-predisposing syndrome
- M27V (p.Met27Val), rs762676176, ClinGen CA410930945, ClinVar RCV001210994, ClinVar RCV003462708, CADD 23.20, PolyPhen-2 0.08, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided; Rhabdoid tumor predisposi
- I28F (p.Ile28Phe), rs2517652837, ClinGen CA410930980, ClinVar RCV004508444, Uncertain significance, Hereditary cancer-predisposing syndrome
- I28K (p.Ile28Lys), rs2145952163, ClinGen CA2499226027, ClinVar RCV001371201, Ensembl rs2145952163, Uncertain significance, not provided
- I28M (p.Ile28Met), rs2517652847, ClinGen CA410930991, ClinVar RCV002288286, Uncertain significance, Intellectual disability, autosomal dominant 15
- I28V (p.Ile28Val), rs2517652837, ClinGen CA410930978, ClinVar RCV003720892, ClinVar RCV004550663, CADD 23.60, PolyPhen-2 0.01, Uncertain significance, SMARCB1-related disorder; not provided
- I28T (p.Ile28Thr), gnomAD 22-23787252-T-C, CADD 30.00, PolyPhen-2 0.42
- I28I (p.Ile28Ile), gnomAD 22-23787253-C-A, CADD 16.20
- G29D (p.Gly29Asp), cosmic curated COSV53155, CADD 32.00, PolyPhen-2 0.91
- G29R (p.Gly29Arg), rs774011967, ClinGen CA410930996, ClinVar RCV001219480, ExAC rs774011967, AlphaMissense 1.00, MetaLR 0.92, Uncertain significance, not provided
- G29S (p.Gly29Ser), rs774011967, ClinGen CA10145824, ClinVar RCV002013669, ExAC rs774011967, AlphaMissense 1.00, MetaLR 0.92, Uncertain significance, not provided
- G29G (p.Gly29Gly), gnomAD 22-23787256-C-A, CADD 15.20
- S30P (p.Ser30Pro), gnomAD 22-23787257-T-C, CADD 33.00, PolyPhen-2 0.83
- S30S (p.Ser30Ser), rs761868468, gnomAD 22-23787259-C-G, CADD 12.80
- E31* (p.Glu31Ter), rs2145952184, ClinGen CA410931032, ClinVar RCV001967437, ClinVar RCV006554634, Pathogenic
- E31G (p.Glu31Gly), rs267607072, ClinGen CA410931038, ClinVar RCV003572363, AlphaMissense 0.99, MetaLR 0.87, Pathogenic, not provided
- E31K (p.Glu31Lys), cosmic curated COSV53157, CADD 33.00, PolyPhen-2 0.65
- E31Q (p.Glu31Gln), cosmic curated COSV10956
- E31V (p.Glu31Val), rs267607072, ClinGen CA119236, ClinVar RCV000008496, ClinVar RCV003231093, AlphaMissense 0.99, MetaLR 0.87, Conflicting interpretations, Hereditary cancer-predisposing syndrome; not provided
- E31E (p.Glu31Glu), gnomAD 22-23787262-G-A, CADD 35.00
- V32L (p.Val32Leu), Ensembl rs2145959852
- V32M (p.Val32Met), cosmic curated COSV10961, Uncertain significance, SMARCB1-related disorder; Hereditary cancer-predisposing syndrome
- G33* (p.Gly33Ter), Ensembl rs2145959869
- G33A (p.Gly33Ala), Ensembl rs2145959876
- G33E (p.Gly33Glu), NCI-TCGA Cosmic COSV5409, Ensembl rs2145959876, Uncertain significance, Hereditary cancer-predisposing syndrome
- G33R (p.Gly33Arg), cosmic curated COSV10961, Ensembl rs2145959869
- G33V (p.Gly33Val), Ensembl rs2145959876
- N34I (p.Asn34Ile), Ensembl rs2145959891, Uncertain significance
- N34K (p.Asn34Lys), Ensembl rs2145959898, cosmic curated COSV10961, Likely benign
- N34S (p.Asn34Ser), rs2145959891, ClinGen CA410932344, ClinVar RCV001880624, ClinVar RCV002361101, CADD 22.90, PolyPhen-2 0.24, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- N34T (p.Asn34Thr), Ensembl rs2145959891, Uncertain significance
- N34Y (p.Asn34Tyr), Ensembl rs2145959888
- Y35* (p.Tyr35Ter), gnomAD rs1176990918
- Y35F (p.Tyr35Phe), Ensembl rs2145959913
- Y35N (p.Tyr35Asn), Ensembl rs2145959903
- Y35S (p.Tyr35Ser), Ensembl rs2145959913
- Y35Y (p.Tyr35Tyr), rs1176990918, gnomAD 22-23791767-C-T, CADD 10.40
- L36F (p.Leu36Phe), rs2145959920, ClinGen CA410932407, cosmic curated COSV10731, ClinVar RCV001962402, CADD 25.60, PolyPhen-2 0.97, Uncertain significance, not provided
- L36P (p.Leu36Pro), cosmic curated COSV54102
- R37C (p.Arg37Cys), Ensembl rs2145959935, Pathogenic, not provided; Hereditary cancer-predisposing syndrome
- R37G (p.Arg37Gly), Ensembl rs2145959935, Pathogenic, in CSS3
- R37H (p.Arg37His), rs398122368, ClinGen CA145398, ClinVar RCV000074462, ClinVar RCV000262341, AlphaMissense 1.00, MetaLR 0.91, Pathogenic/Likely pathogenic, SMARCB1-related BAFopathy; Coffin-Siris syndrome; not provided
- R37L (p.Arg37Leu), rs398122368, ClinGen CA410932443, ClinVar RCV003764453, Ensembl rs398122368, AlphaMissense 1.00, MetaLR 0.91, Uncertain significance, Developmental disorder
- R37P (p.Arg37Pro), rs398122368, cosmic curated COSV10961, ClinVar RCV004813296, Ensembl rs398122368, AlphaMissense 1.00, MetaLR 0.91, Uncertain significance, Adenoid cystic carcinoma
- R37R (p.Arg37Arg), rs939582770, gnomAD 22-23791773-T-G, CADD 12.90
- M38I (p.Met38Ile), Ensembl rs2145959974, cosmic curated COSV54095
- M38L (p.Met38Leu), Ensembl rs2145959968, CADD 21.80, PolyPhen-2 0.00
- M38T (p.Met38Thr), Ensembl rs2145959970
- F39I (p.Phe39Ile), Ensembl rs2145959983
- F39L (p.Phe39Leu), ExAC rs757517233, TOPMed rs757517233, gnomAD rs757517233, Likely benign
- F39F (p.Phe39Phe), rs757517233, gnomAD 22-23791779-C-T, CADD 13.10
- R40* (p.Arg40Ter), rs1060503015, ClinGen CA16616318, cosmic curated COSV54092, ClinVar RCV001390068, AlphaMissense 1.00, MetaLR 0.90, Pathogenic
- R40G (p.Arg40Gly), Ensembl rs1060503015, Pathogenic
- R40L (p.Arg40Leu), Ensembl rs1928397102, Uncertain significance
- R40P (p.Arg40Pro), Ensembl rs1928397102, Uncertain significance
- R40Q (p.Arg40Gln), rs1928397102, ClinGen CA410932493, NCI-TCGA Cosmic COSV5409, cosmic curated COSV54093, CADD 32.00, PolyPhen-2 1.00, Uncertain significance, Hereditary cancer-predisposing syndrome; not provided
- G41A (p.Gly41Ala), Ensembl rs2145960040
- G41C (p.Gly41Cys), cosmic curated COSV54100, Ensembl rs2145960032
- G41D (p.Gly41Asp), Ensembl rs2145960040
- G41R (p.Gly41Arg), Ensembl rs2145960032
- G41S (p.Gly41Ser), Ensembl rs2145960032, Uncertain significance, not provided
- S42C (p.Ser42Cys), Ensembl rs2145960051
- S42F (p.Ser42Phe), Ensembl rs2145960051
- S42P (p.Ser42Pro), Ensembl rs2145960047
- L43R (p.Leu43Arg), rs1928397303, ClinGen CA410932549, ClinVar RCV001320892, Ensembl rs1928397303, AlphaMissense 1.00, MetaLR 0.92, Uncertain significance, not provided
- L43V (p.Leu43Val), Ensembl rs2145960061
- Y44* (p.Tyr44Ter), ESP rs370334151, TOPMed rs370334151, gnomAD rs370334151, Likely benign
- Y44D (p.Tyr44Asp), Ensembl rs2145960088
- Y44F (p.Tyr44Phe), Ensembl rs2145960091
- Y44H (p.Tyr44His), Ensembl rs2145960088
- Y44Y (p.Tyr44Tyr), rs370334151, gnomAD 22-23791794-C-T, CADD 13.30
- K45E (p.Lys45Glu), cosmic curated COSV54101
- K45M (p.Lys45Met), Ensembl rs2145960098
- K45N (p.Lys45Asn), cosmic curated COSV54102
- K45T (p.Lys45Thr), gnomAD 22-23791796-A-C, CADD 29.40, PolyPhen-2 0.95
- R46* (p.Arg46Ter), Ensembl rs2145960101
- R46G (p.Arg46Gly), Ensembl rs2145960101
- R46I (p.Arg46Ile), cosmic curated COSV10808
- R46S (p.Arg46Ser), Ensembl rs2145960119
- R46T (p.Arg46Thr), Ensembl rs2145960114
- Y47* (p.Tyr47Ter), rs1601388576, Ensembl rs1601388576, ClinGen CA410932660, cosmic curated COSV54093, Pathogenic
- Y47C (p.Tyr47Cys), cosmic curated COSV10961, ExAC rs781675982, gnomAD rs781675982
- Y47D (p.Tyr47Asp), Ensembl rs2145960122
- Y47F (p.Tyr47Phe), ExAC rs781675982, gnomAD rs781675982
- Y47N (p.Tyr47Asn), Ensembl rs2145960122
- Y47S (p.Tyr47Ser), cosmic curated COSV54099, ExAC rs781675982, gnomAD rs781675982, CADD 29.60, PolyPhen-2 0.93
- Y47Y (p.Tyr47Tyr), rs1601388576, gnomAD 22-23791803-C-T, CADD 9.58
- P48H (p.Pro48His), Ensembl rs387906811, Pathogenic
- P48L (p.Pro48Leu), rs387906811, ClinGen CA129018, ClinVar RCV000023122, ClinVar RCV001321700, AlphaMissense 1.00, MetaLR 0.94, Uncertain significance, not provided
- P48R (p.Pro48Arg), Ensembl rs387906811, Pathogenic
- P48S (p.Pro48Ser), rs2517660395, ClinGen CA410932669, ClinVar RCV002392027, cosmic curated COSV54098, Uncertain significance, Hereditary cancer-predisposing syndrome
Public SMARCB1 analysis runs
- SMARCB1 analysis run — SMARCB1 (1,425 variants) — completed 2026-08-19