RTPS2
MCID: RHB011
MIFTS: 27

Rhabdoid Tumor Predisposition Syndrome 2 (RTPS2)

Categories: Cancer diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rhabdoid Tumor Predisposition Syndrome 2

MalaCards integrated aliases for Rhabdoid Tumor Predisposition Syndrome 2:

Name: Rhabdoid Tumor Predisposition Syndrome 2 58 76 30 13 6 74
Rtps2 58 76
Tumor, Rhabdoid, Predisposition Syndrome, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
increased risk of developing early-onset aggressive cancers


HPO:

33
rhabdoid tumor predisposition syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613325
MeSH 45 D018335
MedGen 43 C2750074
UMLS 74 C2750074

Summaries for Rhabdoid Tumor Predisposition Syndrome 2

OMIM : 58 Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014). See also RTPS1 (609322), which is caused by mutation in the SMARCB1 gene (601607) on chromosome 22q11. (613325)

MalaCards based summary : Rhabdoid Tumor Predisposition Syndrome 2, also known as rtps2, is related to rhabdoid cancer. An important gene associated with Rhabdoid Tumor Predisposition Syndrome 2 is SMARCA4 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4). The drugs Carboplatin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and ovary, and related phenotypes are neoplasm of the central nervous system and carcinoma

UniProtKB/Swiss-Prot : 76 Rhabdoid tumor predisposition syndrome 2: A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood.

Related Diseases for Rhabdoid Tumor Predisposition Syndrome 2

Diseases in the Rhabdoid Tumor Predisposition Syndrome 1 family:

Rhabdoid Tumor Predisposition Syndrome 2

Diseases related to Rhabdoid Tumor Predisposition Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rhabdoid cancer 11.6

Symptoms & Phenotypes for Rhabdoid Tumor Predisposition Syndrome 2

Human phenotypes related to Rhabdoid Tumor Predisposition Syndrome 2:

33
# Description HPO Frequency HPO Source Accession
1 neoplasm of the central nervous system 33 HP:0100006
2 carcinoma 33 HP:0030731

Symptoms via clinical synopsis from OMIM:

58
Neoplasia:
rhabdoid tumors, malignant
small cell carcinoma of the ovary, hypercalcemic type

Clinical features from OMIM:

613325

Drugs & Therapeutics for Rhabdoid Tumor Predisposition Syndrome 2

Drugs for Rhabdoid Tumor Predisposition Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 182)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 41575-94-4 38904 10339178 498142
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 6055-19-2, 50-18-0 2907
3
Melphalan Approved Phase 2, Phase 3,Phase 1,Not Applicable 148-82-3 460612 4053
4
Etoposide Approved Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable 33419-42-0 36462
5
Thiotepa Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 52-24-4 5453
6
leucovorin Approved Phase 3,Phase 2,Phase 1,Early Phase 1 58-05-9 6006 143
7
Temozolomide Approved, Investigational Phase 3,Phase 2,Phase 1 85622-93-1 5394
8
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 441203 84093 2767
9
Lenograstim Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
10
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
11
Methotrexate Approved Phase 3,Phase 2,Phase 1,Early Phase 1 1959-05-2, 59-05-2 126941
12
Sulfamethoxazole Approved Phase 3 723-46-6 5329
13
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
14
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
15
Sargramostim Approved, Investigational Phase 3,Phase 1,Not Applicable 123774-72-1, 83869-56-1
16
Dactinomycin Approved, Investigational Phase 3,Phase 2 50-76-0 457193 2019
17
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
18
Levoleucovorin Approved, Investigational Phase 3,Phase 2,Early Phase 1 68538-85-2
19
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1,Early Phase 1 59-30-3 6037
20
Calcium Approved, Nutraceutical Phase 3,Phase 2 7440-70-2 271
21
Doxil Approved June 1999 Phase 3,Phase 2 31703
22 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
23
Emodepside Investigational, Vet_approved Phase 3 155030-63-0
24 Etoposide phosphate Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable
25 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
26 Folic Acid Antagonists Phase 3,Phase 2,Phase 1,Early Phase 1
27 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
28 Dermatologic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
29 Alkylating Agents Phase 3,Phase 2,Phase 1,Not Applicable
30 Antimitotic Agents Phase 3,Phase 2,Phase 1,Not Applicable
31 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1,Early Phase 1
32 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
33 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1
34 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
35 Vitamin B9 Phase 3,Phase 2,Phase 1,Early Phase 1
36 Folate Phase 3,Phase 2,Phase 1,Early Phase 1
37 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
38 Antimetabolites Phase 3,Phase 2,Phase 1,Early Phase 1
39 Vitamin B Complex Phase 3,Phase 2,Phase 1,Early Phase 1
40 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable
41 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1,Not Applicable
42 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
43 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
44 Anti-Infective Agents Phase 3,Phase 2,Phase 1
45 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
46 Anesthetics, General Phase 3
47 Analgesics Phase 3
48 Liver Extracts Phase 3,Phase 1,Phase 2,Not Applicable
49 Adjuvants, Anesthesia Phase 3
50 Narcotics Phase 3

Interventional clinical trials:

(show top 50) (show all 93)
# Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for High Risk Central Nervous System (CNS) Tumors Unknown status NCT00179803 Phase 2, Phase 3
2 Combination Chemotherapy With or Without Etoposide Followed By an Autologous Stem Cell Transplant in Treating Young Patients With Previously Untreated Malignant Brain Tumors Unknown status NCT00392886 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;methotrexate;temozolomide;thiotepa;vincristine sulfate
3 Chemotherapy With or Without Surgery, Radiation Therapy, or Stem Cell Transplantation in Treating Young Patients With Kidney Tumors Completed NCT00002610 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
4 Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor Completed NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate
5 Combination Chemotherapy Followed by Second-Look Surgery and Radiation Therapy in Treating Children With Nonmetastatic Medulloblastoma or Primitive Neuroectodermal Tumor Completed NCT00006461 Phase 3 cisplatin;cyclophosphamide;vincristine sulfate;etoposide
6 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
7 Combination Chemotherapy Alone or With Radiation Therapy in Treating Children With Kidney Cancer Completed NCT00002611 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
8 Combination Chemotherapy, Radiation Therapy, and an Autologous Peripheral Blood Stem Cell Transplant in Treating Young Patients With Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System Active, not recruiting NCT00653068 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Etoposide;Leucovorin Calcium;Methotrexate;Thiotepa;Vincristine Sulfate
9 Treatment of Patients With Newly Diagnosed Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Active, not recruiting NCT00085202 Phase 3 cisplatin;cyclophosphamide;vincristine
10 Oxaliplatin in Treating Children With Recurrent or Refractory Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Completed NCT00047177 Phase 2 Oxaliplatin
11 Chemotherapy Combined With Radiation Therapy for Newly Diagnosed CNS AT/RT Completed NCT00084838 Phase 2 cisplatin;cyclophosphamide;cytarabine;dexrazoxane hydrochloride;doxorubicin hydrochloride;etoposide;leucovorin calcium;methotrexate;temozolomide;therapeutic hydrocortisone;vincristine sulfate;Dactinomycin
12 Combination Chemotherapy, Radiation Therapy, and/or Surgery in Treating Patients With High-Risk Kidney Tumors Completed NCT00335556 Phase 2 Doxorubicin Hydrochloride;Irinotecan Hydrochloride;Cyclophosphamide;Etoposide;Carboplatin;Vincristine Sulfate
13 Chemotherapy in Treating Patients With Solid Tumors Completed NCT00003103 Phase 1, Phase 2 docetaxel
14 Phase 2 Study of Alisertib Therapy for Rhabdoid Tumors Recruiting NCT02114229 Phase 2 alisertib;methotrexate;cisplatin;carboplatin;cyclophosphamide;etoposide;topotecan;vincristine
15 Stereotactic Body Radiotherapy (SBRT) for Pulmonary Metastases in Ewing Sarcoma, Rhabdomyosarcoma, and Wilms Tumors Recruiting NCT02581384 Phase 1, Phase 2
16 Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial) Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;PI3K/mTOR Inhibitor LY3023414;Selumetinib Sulfate;Tazemetostat;Ulixertinib;Vemurafenib
17 A Phase II, Multicenter Study of the EZH2 Inhibitor Tazemetostat in Adult Subjects With INI1-Negative Tumors or Relapsed/Refractory Synovial Sarcoma Recruiting NCT02601950 Phase 2 Tazemetostat
18 Phase II Study of Intraventricular Methotrexate in Children With Recurrent or Progressive Malignant Brain Tumors Recruiting NCT02684071 Phase 2 Intra thecal methotrexate;topotecan;cyclophosphamide
19 Tazemetostat Rollover Study (TRuST): An Open-Label Rollover Study Recruiting NCT02875548 Phase 2 Tazemetostat
20 Ulixertinib in Treating Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03698994 Phase 2 Ulixertinib
21 Palbociclib in Treating Patients With Relapsed or Refractory Rb Positive Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Activating Alterations in Cell Cycle Genes (A Pediatric MATCH Treatment Trial) Recruiting NCT03526250 Phase 2 Palbociclib
22 Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes (A Pediatric MATCH Treatment Trial) Recruiting NCT03233204 Phase 2 Olaparib
23 Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03220035 Phase 2 Vemurafenib
24 Larotrectinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With NTRK Fusions (A Pediatric MATCH Treatment Trial) Recruiting NCT03213704 Phase 2 Larotrectinib
25 PI3K/mTOR Inhibitor LY3023414 in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03213678 Phase 2 PI3K/mTOR Inhibitor LY3023414
26 Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03210714 Phase 2 Erdafitinib
27 Dasatinib, Ifosfamide, Carboplatin, and Etoposide in Treating Young Patients With Metastatic or Recurrent Malignant Solid Tumors Active, not recruiting NCT00788125 Phase 1, Phase 2 carboplatin;dasatinib;etoposide phosphate;ifosfamide
28 Risk-Adapted Therapy for Young Children With Embryonal Brain Tumors, Choroid Plexus Carcinoma, High Grade Glioma or Ependymoma Active, not recruiting NCT00602667 Phase 2 Induction Chemotherapy;Low-Risk Therapy;High-Risk Therapy;Intermediate-Risk Therapy
29 Iodine I 131 Monoclonal Antibody 3F8 in Treating Patients With Central Nervous System Cancer or Leptomeningeal Cancer Active, not recruiting NCT00445965 Phase 2
30 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Immunogenicity, and Preliminary Efficacy of Atezolizumab (Anti-Programmed Death-Ligand 1 [PD-L1] Antibody) in Pediatric and Young Adult Participants With Solid Tumors Active, not recruiting NCT02541604 Phase 1, Phase 2 Atezolizumab
31 Tazemetostat in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With EZH2, SMARCB1, or SMARCA4 Gene Mutations (A Pediatric MATCH Treatment Trial) Suspended NCT03213665 Phase 2 Tazemetostat
32 Melphalan, Carboplatin, Mannitol, and Sodium Thiosulfate in Treating Patients With Recurrent or Progressive CNS Embryonal or Germ Cell Tumors Suspended NCT00983398 Phase 1, Phase 2 Carboplatin;Mannitol;Melphalan;Sodium Thiosulfate
33 Antineoplaston Therapy in Treating Children With Rhabdoid Tumor of the Central Nervous System Terminated NCT00003469 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
34 Methotrexate Infusion Into Fourth Ventricle in Children With Recurrent Malignant Fourth Ventricular Brain Tumors Completed NCT02458339 Phase 1 Methotrexate
35 Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
36 ABT-888 and Temozolomide in Treating Young Patients With Recurrent or Refractory CNS Tumors Completed NCT00946335 Phase 1 veliparib;temozolomide
37 AZD2171 in Treating Young Patients With Recurrent, Progressive, or Refractory Primary CNS Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
38 Lenalidomide in Treating Young Patients With Recurrent, Progressive, or Refractory CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
39 Vorinostat With or Without Isotretinoin in Treating Young Patients With Recurrent or Refractory Solid Tumors, Lymphoma, or Leukemia Completed NCT00217412 Phase 1 vorinostat;isotretinoin
40 Thalidomide and Docetaxel in Treating Patients With Advanced Cancer Completed NCT00049296 Phase 1 docetaxel;thalidomide
41 Talabostat Combined With Temozolomide or Carboplatin in Treating Young Patients With Relapsed or Refractory Brain Tumors or Other Solid Tumors Completed NCT00303940 Phase 1 carboplatin;talabostat mesylate;temozolomide
42 Temozolomide, Vincristine, and Irinotecan in Treating Young Patients With Refractory Solid Tumors Completed NCT00138216 Phase 1 irinotecan hydrochloride;temozolomide;vincristine sulfate
43 Peripheral Stem Cell Transplantation Plus Chemotherapy in Treating Patients With Malignant Solid Tumors Completed NCT00007813 Phase 1 carboplatin;cyclophosphamide;etoposide
44 Chemotherapy Plus Peripheral Stem Cell Transplantation in Treating Infants With Malignant Brain or Spinal Cord Tumors Completed NCT00003141 Phase 1 carboplatin;cisplatin;cyclophosphamide;etoposide;thiotepa;vincristine sulfate
45 Chemotherapy and Stem Cell Transplantation in Treating Children With Central Nervous System Cancer Completed NCT00053118 Phase 1 carboplatin;etoposide
46 SCH 66336 in Treating Children With Recurrent or Progressive Brain Tumors Completed NCT00015899 Phase 1 lonafarnib
47 p28 in Treating Younger Patients With Recurrent or Progressive Central Nervous System Tumors Completed NCT01975116 Phase 1 azurin-derived cell-penetrating peptide p28
48 Modified Measles Virus (MV-NIS) for Children and Young Adults With Recurrent Medulloblastoma or Recurrent ATRT Recruiting NCT02962167 Phase 1
49 A Phase 1 Study of the EZH2 Inhibitor Tazemetostat in Pediatric Subjects With Relapsed or Refractory INI1-Negative Tumors or Synovial Sarcoma Recruiting NCT02601937 Phase 1 Tazemetostat
50 SJDAWN: St. Jude Children's Research Hospital Phase 1 Study Evaluating Molecularly-Driven Doublet Therapies for Children and Young Adults With Recurrent Brain Tumors Recruiting NCT03434262 Phase 1 Gemcitabine;ribociclib;sonidegib;trametinib

Search NIH Clinical Center for Rhabdoid Tumor Predisposition Syndrome 2

Genetic Tests for Rhabdoid Tumor Predisposition Syndrome 2

Genetic tests related to Rhabdoid Tumor Predisposition Syndrome 2:

# Genetic test Affiliating Genes
1 Rhabdoid Tumor Predisposition Syndrome 2 30 SMARCA4

Anatomical Context for Rhabdoid Tumor Predisposition Syndrome 2

MalaCards organs/tissues related to Rhabdoid Tumor Predisposition Syndrome 2:

42
Brain, Kidney, Ovary, T Cells, Spinal Cord, Bone, Testes

Publications for Rhabdoid Tumor Predisposition Syndrome 2

Variations for Rhabdoid Tumor Predisposition Syndrome 2

ClinVar genetic disease variations for Rhabdoid Tumor Predisposition Syndrome 2:

6 (show top 50) (show all 2333)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCA4 NM_001128849.1(SMARCA4): c.120C> T (p.His40=) single nucleotide variant Benign/Likely benign rs375884151 GRCh38 Chromosome 19, 10984271: 10984271
2 SMARCA4 NM_001128849.1(SMARCA4): c.120C> T (p.His40=) single nucleotide variant Benign/Likely benign rs375884151 GRCh37 Chromosome 19, 11094947: 11094947
3 SMARCA4 NM_001128849.1(SMARCA4): c.223-5C> T single nucleotide variant Benign/Likely benign rs376775933 GRCh37 Chromosome 19, 11095944: 11095944
4 SMARCA4 NM_001128849.1(SMARCA4): c.223-5C> T single nucleotide variant Benign/Likely benign rs376775933 GRCh38 Chromosome 19, 10985268: 10985268
5 SMARCA4 NM_001128849.1(SMARCA4): c.708T> C (p.Pro236=) single nucleotide variant Benign/Likely benign rs62639303 GRCh37 Chromosome 19, 11097217: 11097217
6 SMARCA4 NM_001128849.1(SMARCA4): c.708T> C (p.Pro236=) single nucleotide variant Benign/Likely benign rs62639303 GRCh38 Chromosome 19, 10986541: 10986541
7 SMARCA4 NM_001128849.1(SMARCA4): c.791G> C (p.Gly264Ala) single nucleotide variant Uncertain significance rs797045988 GRCh38 Chromosome 19, 10986935: 10986935
8 SMARCA4 NM_001128849.1(SMARCA4): c.791G> C (p.Gly264Ala) single nucleotide variant Uncertain significance rs797045988 GRCh37 Chromosome 19, 11097611: 11097611
9 SMARCA4 NM_001128849.1(SMARCA4): c.981A> C (p.Pro327=) single nucleotide variant Benign/Likely benign rs547268941 GRCh37 Chromosome 19, 11098463: 11098463
10 SMARCA4 NM_001128849.1(SMARCA4): c.981A> C (p.Pro327=) single nucleotide variant Benign/Likely benign rs547268941 GRCh38 Chromosome 19, 10987787: 10987787
11 SMARCA4 NM_001128849.1(SMARCA4): c.1140C> T (p.His380=) single nucleotide variant Benign/Likely benign rs114594206 GRCh38 Chromosome 19, 10989338: 10989338
12 SMARCA4 NM_001128849.1(SMARCA4): c.1140C> T (p.His380=) single nucleotide variant Benign/Likely benign rs114594206 GRCh37 Chromosome 19, 11100014: 11100014
13 SMARCA4 NM_001128849.1(SMARCA4): c.1236C> T (p.Phe412=) single nucleotide variant Likely benign rs140000691 GRCh37 Chromosome 19, 11100110: 11100110
14 SMARCA4 NM_001128849.1(SMARCA4): c.1236C> T (p.Phe412=) single nucleotide variant Likely benign rs140000691 GRCh38 Chromosome 19, 10989434: 10989434
15 SMARCA4 NM_001128849.1(SMARCA4): c.1287G> A (p.Ala429=) single nucleotide variant Conflicting interpretations of pathogenicity rs143600641 GRCh38 Chromosome 19, 10991191: 10991191
16 SMARCA4 NM_001128849.1(SMARCA4): c.1287G> A (p.Ala429=) single nucleotide variant Conflicting interpretations of pathogenicity rs143600641 GRCh37 Chromosome 19, 11101867: 11101867
17 SMARCA4 NM_001128849.1(SMARCA4): c.1419+7T> C single nucleotide variant Benign/Likely benign rs112977340 GRCh38 Chromosome 19, 10991330: 10991330
18 SMARCA4 NM_001128849.1(SMARCA4): c.1419+7T> C single nucleotide variant Benign/Likely benign rs112977340 GRCh37 Chromosome 19, 11102006: 11102006
19 SMARCA4 NM_001128849.1(SMARCA4): c.1791T> G (p.Pro597=) single nucleotide variant Conflicting interpretations of pathogenicity rs141806282 GRCh38 Chromosome 19, 10996523: 10996523
20 SMARCA4 NM_001128849.1(SMARCA4): c.1791T> G (p.Pro597=) single nucleotide variant Conflicting interpretations of pathogenicity rs141806282 GRCh37 Chromosome 19, 11107199: 11107199
21 SMARCA4 NM_001128849.1(SMARCA4): c.2001+8T> G single nucleotide variant Benign/Likely benign rs112549813 GRCh37 Chromosome 19, 11114081: 11114081
22 SMARCA4 NM_001128849.1(SMARCA4): c.2001+8T> G single nucleotide variant Benign/Likely benign rs112549813 GRCh38 Chromosome 19, 11003405: 11003405
23 SMARCA4 NM_001128849.1(SMARCA4): c.2275-3C> A single nucleotide variant Benign/Likely benign rs117611401 GRCh37 Chromosome 19, 11123622: 11123622
24 SMARCA4 NM_001128849.1(SMARCA4): c.2275-3C> A single nucleotide variant Benign/Likely benign rs117611401 GRCh38 Chromosome 19, 11012946: 11012946
25 SMARCA4 NM_001128849.1(SMARCA4): c.2438+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs370782232 GRCh38 Chromosome 19, 11013122: 11013122
26 SMARCA4 NM_001128849.1(SMARCA4): c.2438+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs370782232 GRCh37 Chromosome 19, 11123798: 11123798
27 SMARCA4 NM_001128849.1(SMARCA4): c.2460C> T (p.Tyr820=) single nucleotide variant Conflicting interpretations of pathogenicity rs372410282 GRCh37 Chromosome 19, 11129654: 11129654
28 SMARCA4 NM_001128849.1(SMARCA4): c.2460C> T (p.Tyr820=) single nucleotide variant Conflicting interpretations of pathogenicity rs372410282 GRCh38 Chromosome 19, 11018978: 11018978
29 SMARCA4 NM_001128849.1(SMARCA4): c.2757C> T (p.Pro919=) single nucleotide variant Benign/Likely benign rs113955216 GRCh38 Chromosome 19, 11021865: 11021865
30 SMARCA4 NM_001128849.1(SMARCA4): c.2757C> T (p.Pro919=) single nucleotide variant Benign/Likely benign rs113955216 GRCh37 Chromosome 19, 11132541: 11132541
31 SMARCA4 NM_001128849.1(SMARCA4): c.2922del (p.Phe975Serfs) deletion Pathogenic rs797045980 GRCh37 Chromosome 19, 11134256: 11134256
32 SMARCA4 NM_001128849.1(SMARCA4): c.2922del (p.Phe975Serfs) deletion Pathogenic rs797045980 GRCh38 Chromosome 19, 11023580: 11023580
33 SMARCA4 NM_001128849.1(SMARCA4): c.2936G> A (p.Arg979Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs797045981 GRCh37 Chromosome 19, 11134270: 11134270
34 SMARCA4 NM_001128849.1(SMARCA4): c.2936G> A (p.Arg979Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs797045981 GRCh38 Chromosome 19, 11023594: 11023594
35 SMARCA4 NM_001128849.1(SMARCA4): c.2967C> T (p.Pro989=) single nucleotide variant Conflicting interpretations of pathogenicity rs149874634 GRCh37 Chromosome 19, 11134301: 11134301
36 SMARCA4 NM_001128849.1(SMARCA4): c.2967C> T (p.Pro989=) single nucleotide variant Conflicting interpretations of pathogenicity rs149874634 GRCh38 Chromosome 19, 11023625: 11023625
37 SMARCA4 NM_001128849.1(SMARCA4): c.3045C> T (p.Gly1015=) single nucleotide variant Benign/Likely benign rs56101423 GRCh37 Chromosome 19, 11135078: 11135078
38 SMARCA4 NM_001128849.1(SMARCA4): c.3045C> T (p.Gly1015=) single nucleotide variant Benign/Likely benign rs56101423 GRCh38 Chromosome 19, 11024402: 11024402
39 SMARCA4 NM_001128849.1(SMARCA4): c.3480dup (p.Leu1161Alafs) duplication Pathogenic rs797045982 GRCh38 Chromosome 19, 11030827: 11030827
40 SMARCA4 NM_001128849.1(SMARCA4): c.3480dup (p.Leu1161Alafs) duplication Pathogenic rs797045982 GRCh37 Chromosome 19, 11141503: 11141503
41 SMARCA4 NM_001128849.1(SMARCA4): c.3732C> T (p.Arg1244=) single nucleotide variant Conflicting interpretations of pathogenicity rs797045983 GRCh37 Chromosome 19, 11144151: 11144151
42 SMARCA4 NM_001128849.1(SMARCA4): c.3732C> T (p.Arg1244=) single nucleotide variant Conflicting interpretations of pathogenicity rs797045983 GRCh38 Chromosome 19, 11033475: 11033475
43 SMARCA4 NM_001128849.1(SMARCA4): c.3830C> T (p.Pro1277Leu) single nucleotide variant Uncertain significance rs746219091 GRCh38 Chromosome 19, 11033822: 11033822
44 SMARCA4 NM_001128849.1(SMARCA4): c.3830C> T (p.Pro1277Leu) single nucleotide variant Uncertain significance rs746219091 GRCh37 Chromosome 19, 11144498: 11144498
45 SMARCA4 NM_001128849.1(SMARCA4): c.3975C> T (p.Arg1325=) single nucleotide variant Conflicting interpretations of pathogenicity rs144803359 GRCh37 Chromosome 19, 11145613: 11145613
46 SMARCA4 NM_001128849.1(SMARCA4): c.3975C> T (p.Arg1325=) single nucleotide variant Conflicting interpretations of pathogenicity rs144803359 GRCh38 Chromosome 19, 11034937: 11034937
47 SMARCA4 NM_001128849.1(SMARCA4): c.4152G> A (p.Thr1384=) single nucleotide variant Conflicting interpretations of pathogenicity rs372620534 GRCh38 Chromosome 19, 11035114: 11035114
48 SMARCA4 NM_001128849.1(SMARCA4): c.4152G> A (p.Thr1384=) single nucleotide variant Conflicting interpretations of pathogenicity rs372620534 GRCh37 Chromosome 19, 11145790: 11145790
49 SMARCA4 NM_001128849.1(SMARCA4): c.4174A> G (p.Ile1392Val) single nucleotide variant Uncertain significance rs370424312 GRCh37 Chromosome 19, 11150137: 11150137
50 SMARCA4 NM_001128849.1(SMARCA4): c.4174A> G (p.Ile1392Val) single nucleotide variant Uncertain significance rs370424312 GRCh38 Chromosome 19, 11039461: 11039461

Cosmic variations for Rhabdoid Tumor Predisposition Syndrome 2:

9 (show all 41)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM3724504 WT1 ovary,NS,carcinoma,small cell carcinoma c.1036A>C p.K346Q 11:32396266-32396266 0
2 COSM10704 TP53 ovary,NS,carcinoma,small cell carcinoma c.844C>T p.R282W 17:7673776-7673776 0
3 COSM10646 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 0
4 COSM10889 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 0
5 COSM10662 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 0
6 COSM44535 TP53 ovary,NS,carcinoma,small cell carcinoma c.761T>A p.I254N 17:7674202-7674202 0
7 COSM1104 SMARCB1 central nervous system,choroid plexus,other,choroid plexus carcinoma c.233-1G>C p.? 22:23793558-23793558 0
8 COSM3724490 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2506G>T p.G836* 19:11019591-11019591 0
9 COSM6493920 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1245+1G>T p.? 19:10989444-10989444 0
10 COSM3724530 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2439-2A>T p.? 19:11018955-11018955 0
11 COSM335837 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.991C>T p.Q331* 19:10987797-10987797 0
12 COSM3724498 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.4170+1G>A p.? 19:11035133-11035133 0
13 COSM368689 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3546+1G>T p.? 19:11030894-11030894 0
14 COSM1737873 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3277C>T p.R1093* 19:11027845-11027845 0
15 COSM3735018 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.561C>G p.Y187* 19:10986394-10986394 0
16 COSM3724528 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3168+1G>A p.? 19:11025509-11025509 0
17 COSM3724529 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2438+1G>A p.? 19:11013113-11013113 0
18 COSM3735032 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1419+1G>T p.? 19:10991324-10991324 0
19 COSM3724497 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3546+1G>A p.? 19:11030894-11030894 0
20 COSM1737872 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3760G>T p.E1254* 19:11033503-11033503 0
21 COSM3735019 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2362C>T p.Q788* 19:11013036-11013036 0
22 COSM1524017 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2539C>T p.Q847* 19:11019624-11019624 0
23 COSM3724525 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3565C>T p.R1189* 19:11033308-11033308 0
24 COSM3735034 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1761+2T>A p.? 19:10996382-10996382 0
25 COSM3724491 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3496C>T p.Q1166* 19:11030843-11030843 0
26 COSM3735016 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1378C>T p.Q460* 19:10991282-10991282 0
27 COSM3724500 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2859+1G>A p.? 19:11021968-11021968 0
28 COSM3735020 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3676C>T p.Q1226* 19:11033419-11033419 0
29 COSM3724499 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1761+1G>A p.? 19:10996381-10996381 0
30 COSM3735035 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3168+1G>C p.? 19:11025509-11025509 0
31 COSM3735028 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2915T>C p.L972P 19:11023573-11023573 0
32 COSM3735030 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2275-1G>T p.? 19:11012948-11012948 0
33 COSM6493921 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2973+1G>A p.? 19:11023632-11023632 0
34 COSM6942904 PTPRT ovary,NS,carcinoma,small cell carcinoma c.3823C>G p.L1275V 20:42098510-42098510 0
35 COSM6493919 POLE ovary,NS,carcinoma,small cell carcinoma c.861T>A p.D287E 12:132676594-132676594 0
36 COSM6942903 KMT2A ovary,NS,carcinoma,small cell carcinoma c.9005A>T p.D3002V 11:118504906-118504906 0
37 COSM6942902 ovary,NS,carcinoma,small cell carcinoma c.9014A>T p.D3005V 11:118504906-118504906 0
38 COSM99925 ovary,NS,carcinoma,small cell carcinoma c.844C>T p.R282W 17:7673776-7673776 0
39 COSM3378339 ovary,NS,carcinoma,small cell carcinoma c.844C>T p.R282W 17:7673776-7673776 0
40 COSM6942905 ovary,NS,carcinoma,small cell carcinoma c.3787C>G p.L1263V 20:42098510-42098510 0
41 COSM1636702 ovary,NS,carcinoma,small cell carcinoma c.844C>T p.R282W 17:7673776-7673776 0

Expression for Rhabdoid Tumor Predisposition Syndrome 2

Search GEO for disease gene expression data for Rhabdoid Tumor Predisposition Syndrome 2.

Pathways for Rhabdoid Tumor Predisposition Syndrome 2

GO Terms for Rhabdoid Tumor Predisposition Syndrome 2

Sources for Rhabdoid Tumor Predisposition Syndrome 2

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