RTPS2
MCID: RHB011
MIFTS: 29

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 Melphalan 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 183)
# 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 10339178 38904 498142
2
Melphalan Approved Phase 2, Phase 3,Phase 1,Not Applicable 148-82-3 460612 4053
3
Etoposide Approved Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1,Not Applicable 33419-42-0 36462
4
Thiotepa Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 52-24-4 5453
5
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 50-18-0, 6055-19-2 2907
6
Lenograstim Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
7
leucovorin Approved Phase 3,Phase 2,Phase 1,Early Phase 1 58-05-9 143 6006
8
Temozolomide Approved, Investigational Phase 3,Phase 2,Phase 1 85622-93-1 5394
9
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
10
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 2767 441203 84093
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
Dactinomycin Approved, Investigational Phase 3,Phase 2 50-76-0 457193 2019
14
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
15
Sargramostim Approved, Investigational Phase 3,Phase 1,Not Applicable 123774-72-1, 83869-56-1
16
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
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 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
26 Antimitotic Agents Phase 3,Phase 2,Phase 1,Not Applicable
27 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
28 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1,Early Phase 1
29 Vitamin B9 Phase 3,Phase 2,Phase 1,Early Phase 1
30 Folate Phase 3,Phase 2,Phase 1,Early Phase 1
31 Folic Acid Antagonists Phase 3,Phase 2,Phase 1,Early Phase 1
32 Alkylating Agents Phase 3,Phase 2,Phase 1,Not Applicable
33 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable
34 Antimetabolites Phase 3,Phase 2,Phase 1,Early Phase 1
35 Dermatologic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
36 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
37 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1
38 Vitamin B Complex Phase 3,Phase 2,Phase 1,Early Phase 1
39 Antirheumatic Agents Phase 3,Phase 2,Phase 1,Early Phase 1
40 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Early 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-Infective Agents Phase 3,Phase 2,Phase 1
44 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
45 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
46 Narcotics Phase 3
47 Adjuvants, Anesthesia Phase 3
48 Analgesics Phase 3
49 Anesthetics, Intravenous Phase 3
50 Liver Extracts Phase 3,Phase 1,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 96)
# 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 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) Recruiting NCT03213665 Phase 2 Tazemetostat
17 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
18 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
19 Phase II Study of Intraventricular Methotrexate in Children With Recurrent or Progressive Malignant Brain Tumors Recruiting NCT02684071 Phase 2 Intra thecal methotrexate;topotecan;cyclophosphamide
20 Tazemetostat Rollover Study (TRuST): An Open-Label Rollover Study Recruiting NCT02875548 Phase 2 Tazemetostat
21 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
22 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
23 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;Larotrectinib Sulfate
24 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
25 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
26 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
27 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
28 Immune Checkpoint Inhibitor Nivolumab in People With Select Rare CNS Cancers Recruiting NCT03173950 Phase 2 Nivolumab
29 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
30 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
31 Iodine I 131 Monoclonal Antibody 3F8 in Treating Patients With Central Nervous System Cancer or Leptomeningeal Cancer Active, not recruiting NCT00445965 Phase 2
32 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
33 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
34 Antineoplaston Therapy in Treating Children With Rhabdoid Tumor of the Central Nervous System Terminated NCT00003469 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
35 Methotrexate Infusion Into Fourth Ventricle in Children With Recurrent Malignant Fourth Ventricular Brain Tumors Completed NCT02458339 Phase 1 Methotrexate
36 Vorinostat and Temozolomide in Treating Young Patients With Relapsed or Refractory Primary Brain Tumors or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
37 ABT-888 and Temozolomide in Treating Young Patients With Recurrent or Refractory CNS Tumors Completed NCT00946335 Phase 1 veliparib;temozolomide
38 AZD2171 in Treating Young Patients With Recurrent, Progressive, or Refractory Primary CNS Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
39 Lenalidomide in Treating Young Patients With Recurrent, Progressive, or Refractory CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
40 Vorinostat With or Without Isotretinoin in Treating Young Patients With Recurrent or Refractory Solid Tumors, Lymphoma, or Leukemia Completed NCT00217412 Phase 1 vorinostat;isotretinoin
41 Thalidomide and Docetaxel in Treating Patients With Advanced Cancer Completed NCT00049296 Phase 1 docetaxel;thalidomide
42 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
43 Temozolomide, Vincristine, and Irinotecan in Treating Young Patients With Refractory Solid Tumors Completed NCT00138216 Phase 1 irinotecan hydrochloride;temozolomide;vincristine sulfate
44 Peripheral Stem Cell Transplantation Plus Chemotherapy in Treating Patients With Malignant Solid Tumors Completed NCT00007813 Phase 1 carboplatin;cyclophosphamide;etoposide
45 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
46 Chemotherapy and Stem Cell Transplantation in Treating Children With Central Nervous System Cancer Completed NCT00053118 Phase 1 carboplatin;etoposide
47 SCH 66336 in Treating Children With Recurrent or Progressive Brain Tumors Completed NCT00015899 Phase 1 lonafarnib
48 p28 in Treating Younger Patients With Recurrent or Progressive Central Nervous System Tumors Completed NCT01975116 Phase 1 azurin-derived cell-penetrating peptide p28
49 Modified Measles Virus (MV-NIS) for Children and Young Adults With Recurrent Medulloblastoma or Recurrent ATRT Recruiting NCT02962167 Phase 1
50 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

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

Articles related to Rhabdoid Tumor Predisposition Syndrome 2:

# Title Authors Year
1
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. ( 25394175 )
2015
2
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. ( 24658002 )
2014
3
Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again. ( 23775540 )
2013
4
Small cell carcinoma of the ovary of hypercalcemic type: a case report. ( 22424359 )
2012
5
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. ( 20137775 )
2010
6
Familial small cell carcinoma of the ovary. ( 19621450 )
2009
7
Immature teratomas of different origin carried by a pregnant mother and her fetus. ( 8269278 )
1993

Variations for Rhabdoid Tumor Predisposition Syndrome 2

ClinVar genetic disease variations for Rhabdoid Tumor Predisposition Syndrome 2:

6 (show top 50) (show all 2337)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCA4 NM_001128849.1(SMARCA4): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs267607070 GRCh37 Chromosome 19, 11143984: 11143984
2 SMARCA4 NM_001128849.1(SMARCA4): c.3565C> T (p.Arg1189Ter) single nucleotide variant Pathogenic rs267607070 GRCh38 Chromosome 19, 11033308: 11033308
3 SMARCA4 NM_001128849.1(SMARCA4): c.1114T> C (p.Tyr372His) single nucleotide variant Benign/Likely benign rs140192268 GRCh37 Chromosome 19, 11098596: 11098596
4 SMARCA4 NM_001128849.1(SMARCA4): c.1114T> C (p.Tyr372His) single nucleotide variant Benign/Likely benign rs140192268 GRCh38 Chromosome 19, 10987920: 10987920
5 SMARCA4 NM_001128849.1(SMARCA4): c.1413G> A (p.Lys471=) single nucleotide variant Benign rs17001073 GRCh37 Chromosome 19, 11101993: 11101993
6 SMARCA4 NM_001128849.1(SMARCA4): c.1413G> A (p.Lys471=) single nucleotide variant Benign rs17001073 GRCh38 Chromosome 19, 10991317: 10991317
7 SMARCA4 NM_001128849.1(SMARCA4): c.1419+8C> T single nucleotide variant Benign rs115492175 GRCh37 Chromosome 19, 11102007: 11102007
8 SMARCA4 NM_001128849.1(SMARCA4): c.1419+8C> T single nucleotide variant Benign rs115492175 GRCh38 Chromosome 19, 10991331: 10991331
9 SMARCA4 NM_001128849.1(SMARCA4): c.1509A> G (p.Ala503=) single nucleotide variant Benign rs17001075 GRCh37 Chromosome 19, 11105593: 11105593
10 SMARCA4 NM_001128849.1(SMARCA4): c.1509A> G (p.Ala503=) single nucleotide variant Benign rs17001075 GRCh38 Chromosome 19, 10994917: 10994917
11 SMARCA4 NM_001128849.1(SMARCA4): c.4590C> T (p.Tyr1530=) single nucleotide variant Benign/Likely benign rs139505007 GRCh37 Chromosome 19, 11169000: 11169000
12 SMARCA4 NM_001128849.1(SMARCA4): c.4590C> T (p.Tyr1530=) single nucleotide variant Benign/Likely benign rs139505007 GRCh38 Chromosome 19, 11058324: 11058324
13 SMARCA4 NM_001128849.1(SMARCA4): c.4680C> T (p.Asp1560=) single nucleotide variant Benign rs9105 GRCh37 Chromosome 19, 11169514: 11169514
14 SMARCA4 NM_001128849.1(SMARCA4): c.4680C> T (p.Asp1560=) single nucleotide variant Benign rs9105 GRCh38 Chromosome 19, 11058838: 11058838
15 SMARCA4 NM_001128849.1(SMARCA4): c.915G> A (p.Pro305=) single nucleotide variant Benign rs149573400 GRCh37 Chromosome 19, 11098397: 11098397
16 SMARCA4 NM_001128849.1(SMARCA4): c.915G> A (p.Pro305=) single nucleotide variant Benign rs149573400 GRCh38 Chromosome 19, 10987721: 10987721
17 SMARCA4 NM_001128849.1(SMARCA4): c.930C> A (p.Arg310=) single nucleotide variant Benign/Likely benign rs146141457 GRCh37 Chromosome 19, 11098412: 11098412
18 SMARCA4 NM_001128849.1(SMARCA4): c.930C> A (p.Arg310=) single nucleotide variant Benign/Likely benign rs146141457 GRCh38 Chromosome 19, 10987736: 10987736
19 SMARCA4 NM_001128849.1(SMARCA4): c.76G> A (p.Ala26Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs145867502 GRCh37 Chromosome 19, 11094903: 11094903
20 SMARCA4 NM_001128849.1(SMARCA4): c.76G> A (p.Ala26Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs145867502 GRCh38 Chromosome 19, 10984227: 10984227
21 SMARCA4 NM_001128849.1(SMARCA4): c.1915C> G (p.Leu639Val) single nucleotide variant Uncertain significance rs587778680 GRCh37 Chromosome 19, 11113807: 11113807
22 SMARCA4 NM_001128849.1(SMARCA4): c.1915C> G (p.Leu639Val) single nucleotide variant Uncertain significance rs587778680 GRCh38 Chromosome 19, 11003131: 11003131
23 SMARCA4 NM_001128849.1(SMARCA4): c.602A> T (p.Gln201Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs587778682 GRCh38 Chromosome 19, 10986435: 10986435
24 SMARCA4 NM_001128849.1(SMARCA4): c.602A> T (p.Gln201Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs587778682 GRCh37 Chromosome 19, 11097111: 11097111
25 SMARCA4 NM_001128849.1(SMARCA4): c.589C> T (p.Pro197Ser) single nucleotide variant Benign/Likely benign rs200664441 GRCh38 Chromosome 19, 10986422: 10986422
26 SMARCA4 NM_001128849.1(SMARCA4): c.589C> T (p.Pro197Ser) single nucleotide variant Benign/Likely benign rs200664441 GRCh37 Chromosome 19, 11097098: 11097098
27 SMARCA4 NM_001128849.1(SMARCA4): c.731C> T (p.Pro244Leu) single nucleotide variant Uncertain significance rs587778683 GRCh38 Chromosome 19, 10986564: 10986564
28 SMARCA4 NM_001128849.1(SMARCA4): c.731C> T (p.Pro244Leu) single nucleotide variant Uncertain significance rs587778683 GRCh37 Chromosome 19, 11097240: 11097240
29 SMARCA4 NM_001128849.1(SMARCA4): c.4642A> G (p.Asn1548Asp) single nucleotide variant Uncertain significance rs587778684 GRCh38 Chromosome 19, 11058800: 11058800
30 SMARCA4 NM_001128849.1(SMARCA4): c.4642A> G (p.Asn1548Asp) single nucleotide variant Uncertain significance rs587778684 GRCh37 Chromosome 19, 11169476: 11169476
31 SMARCA4 NM_001128849.1(SMARCA4): c.3841G> A (p.Val1281Ile) single nucleotide variant Uncertain significance rs587778685 GRCh38 Chromosome 19, 11033833: 11033833
32 SMARCA4 NM_001128849.1(SMARCA4): c.3841G> A (p.Val1281Ile) single nucleotide variant Uncertain significance rs587778685 GRCh37 Chromosome 19, 11144509: 11144509
33 SMARCA4 NM_001128849.1(SMARCA4): c.4216C> T (p.Arg1406Cys) single nucleotide variant Uncertain significance rs587778686 GRCh38 Chromosome 19, 11039503: 11039503
34 SMARCA4 NM_001128849.1(SMARCA4): c.4216C> T (p.Arg1406Cys) single nucleotide variant Uncertain significance rs587778686 GRCh37 Chromosome 19, 11150179: 11150179
35 SMARCA4 NM_001128849.1(SMARCA4): c.4211T> G (p.Val1404Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200469979 GRCh38 Chromosome 19, 11039498: 11039498
36 SMARCA4 NM_001128849.1(SMARCA4): c.4211T> G (p.Val1404Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200469979 GRCh37 Chromosome 19, 11150174: 11150174
37 SMARCA4 NM_003072.3(SMARCA4): c.3533G> A (p.Trp1178Ter) single nucleotide variant Pathogenic rs587777460 GRCh38 Chromosome 19, 11030880: 11030880
38 SMARCA4 NM_003072.3(SMARCA4): c.3533G> A (p.Trp1178Ter) single nucleotide variant Pathogenic rs587777460 GRCh37 Chromosome 19, 11141556: 11141556
39 SMARCA4 NM_001128845.1(SMARCA4): c.4071+1G> A single nucleotide variant Pathogenic rs587777461 GRCh38 Chromosome 19, 11035133: 11035133
40 SMARCA4 NM_001128845.1(SMARCA4): c.4071+1G> A single nucleotide variant Pathogenic rs587777461 GRCh37 Chromosome 19, 11145809: 11145809
41 SMARCA4 NM_001128849.1(SMARCA4): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs587777462 GRCh37 Chromosome 19, 11097152: 11097152
42 SMARCA4 NM_001128849.1(SMARCA4): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs587777462 GRCh38 Chromosome 19, 10986476: 10986476
43 SMARCA4 NM_001128845.1(SMARCA4): c.2617-3C> G single nucleotide variant Pathogenic rs587777463 GRCh38 Chromosome 19, 11021722: 11021722
44 SMARCA4 NM_001128845.1(SMARCA4): c.2617-3C> G single nucleotide variant Pathogenic rs587777463 GRCh37 Chromosome 19, 11132398: 11132398
45 SMARCA4 NM_001128849.1(SMARCA4): c.3239G> A (p.Gly1080Asp) single nucleotide variant Pathogenic rs587777464 GRCh38 Chromosome 19, 11027807: 11027807
46 SMARCA4 NM_001128849.1(SMARCA4): c.3239G> A (p.Gly1080Asp) single nucleotide variant Pathogenic rs587777464 GRCh37 Chromosome 19, 11138483: 11138483
47 SMARCA4 NM_001128849.1(SMARCA4): c.120C> T (p.His40=) single nucleotide variant Benign/Likely benign rs375884151 GRCh38 Chromosome 19, 10984271: 10984271
48 SMARCA4 NM_001128849.1(SMARCA4): c.120C> T (p.His40=) single nucleotide variant Benign/Likely benign rs375884151 GRCh37 Chromosome 19, 11094947: 11094947
49 SMARCA4 NM_001128849.1(SMARCA4): c.223-5C> T single nucleotide variant Benign/Likely benign rs376775933 GRCh37 Chromosome 19, 11095944: 11095944
50 SMARCA4 NM_001128849.1(SMARCA4): c.223-5C> T single nucleotide variant Benign/Likely benign rs376775933 GRCh38 Chromosome 19, 10985268: 10985268

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 COSM10662 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 0
3 COSM10704 TP53 ovary,NS,carcinoma,small cell carcinoma c.844C>T p.R282W 17:7673776-7673776 0
4 COSM10646 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 0
5 COSM10889 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 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 COSM6493920 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1245+1G>T p.? 19:10989444-10989444 0
9 COSM3724530 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2439-2A>T p.? 19:11018955-11018955 0
10 COSM3724498 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.4170+1G>A p.? 19:11035133-11035133 0
11 COSM1737873 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3277C>T p.R1093* 19:11027845-11027845 0
12 COSM3735018 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.561C>G p.Y187* 19:10986394-10986394 0
13 COSM3724528 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3168+1G>A p.? 19:11025509-11025509 0
14 COSM3724529 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2438+1G>A p.? 19:11013113-11013113 0
15 COSM3735032 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1419+1G>T p.? 19:10991324-10991324 0
16 COSM3724497 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3546+1G>A p.? 19:11030894-11030894 0
17 COSM1737872 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3760G>T p.E1254* 19:11033503-11033503 0
18 COSM3735019 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2362C>T p.Q788* 19:11013036-11013036 0
19 COSM1524017 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2539C>T p.Q847* 19:11019624-11019624 0
20 COSM3724525 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3565C>T p.R1189* 19:11033308-11033308 0
21 COSM3735034 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1761+2T>A p.? 19:10996382-10996382 0
22 COSM3724491 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3496C>T p.Q1166* 19:11030843-11030843 0
23 COSM3735016 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1378C>T p.Q460* 19:10991282-10991282 0
24 COSM3724500 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2859+1G>A p.? 19:11021968-11021968 0
25 COSM3735020 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3676C>T p.Q1226* 19:11033419-11033419 0
26 COSM3724499 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.1761+1G>A p.? 19:10996381-10996381 0
27 COSM3735035 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3168+1G>C p.? 19:11025509-11025509 0
28 COSM3724490 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2506G>T p.G836* 19:11019591-11019591 0
29 COSM3735028 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2915T>C p.L972P 19:11023573-11023573 0
30 COSM3735030 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2275-1G>T p.? 19:11012948-11012948 0
31 COSM6493921 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.2973+1G>A p.? 19:11023632-11023632 0
32 COSM335837 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.991C>T p.Q331* 19:10987797-10987797 0
33 COSM368689 SMARCA4 ovary,NS,carcinoma,small cell carcinoma c.3546+1G>T p.? 19:11030894-11030894 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 COSM99925 ovary,NS,carcinoma,small cell carcinoma c.844C>T p.R282W 17:7673776-7673776 0
38 COSM6942902 ovary,NS,carcinoma,small cell carcinoma c.9014A>T p.D3005V 11:118504906-118504906 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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