GLM3
MCID: GLM047
MIFTS: 21

Glioma Susceptibility 3 (GLM3)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Glioma Susceptibility 3

MalaCards integrated aliases for Glioma Susceptibility 3:

Name: Glioma Susceptibility 3 57 29 6
Glioblastoma 3 57 13
Glm3 57 75
Glioma, Susceptibility, Type 3 40
Glioma 3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
glioma susceptibility 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613029
MedGen 42 C2751641
MeSH 44 D005910

Summaries for Glioma Susceptibility 3

UniProtKB/Swiss-Prot : 75 Glioma 3: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.

MalaCards based summary : Glioma Susceptibility 3, is also known as glioblastoma 3. An important gene associated with Glioma Susceptibility 3 is BRCA2 (BRCA2, DNA Repair Associated). Affiliated tissues include brain, and related phenotypes are astrocytoma and medulloblastoma

Description from OMIM: 613029

Related Diseases for Glioma Susceptibility 3

Symptoms & Phenotypes for Glioma Susceptibility 3

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
astrocytoma
medulloblastoma
glioblastoma
brain tumors, multiple types


Clinical features from OMIM:

613029

Human phenotypes related to Glioma Susceptibility 3:

32
# Description HPO Frequency HPO Source Accession
1 astrocytoma 32 HP:0009592
2 medulloblastoma 32 HP:0002885
3 glioblastoma multiforme 32 HP:0012174

Drugs & Therapeutics for Glioma Susceptibility 3

Search Clinical Trials , NIH Clinical Center for Glioma Susceptibility 3

Genetic Tests for Glioma Susceptibility 3

Genetic tests related to Glioma Susceptibility 3:

# Genetic test Affiliating Genes
1 Glioma Susceptibility 3 29 BRCA2

Anatomical Context for Glioma Susceptibility 3

MalaCards organs/tissues related to Glioma Susceptibility 3:

41
Brain

Publications for Glioma Susceptibility 3

Variations for Glioma Susceptibility 3

ClinVar genetic disease variations for Glioma Susceptibility 3:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
2 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh38 Chromosome 13, 32329469: 32329470
3 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh37 Chromosome 13, 32914137: 32914137
4 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh38 Chromosome 13, 32340000: 32340000
5 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh37 Chromosome 13, 32914174: 32914174
6 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh38 Chromosome 13, 32340037: 32340037
7 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 GRCh37 Chromosome 13, 32930609: 32930609
8 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 GRCh38 Chromosome 13, 32356472: 32356472
9 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh37 Chromosome 13, 32954050: 32954050
10 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh38 Chromosome 13, 32379913: 32379913
11 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh37 Chromosome 13, 32893291: 32893291
12 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh38 Chromosome 13, 32319154: 32319154
13 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh37 Chromosome 13, 32914349: 32914349
14 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh38 Chromosome 13, 32340212: 32340212
15 BRCA2 NM_000059.3(BRCA2): c.7051G> A (p.Ala2351Thr) single nucleotide variant Uncertain significance rs80358930 GRCh37 Chromosome 13, 32929041: 32929041
16 BRCA2 NM_000059.3(BRCA2): c.7051G> A (p.Ala2351Thr) single nucleotide variant Uncertain significance rs80358930 GRCh38 Chromosome 13, 32354904: 32354904
17 BRCA2 NM_000059.3(BRCA2): c.7625C> T (p.Thr2542Met) single nucleotide variant Uncertain significance rs80358989 GRCh37 Chromosome 13, 32931886: 32931886
18 BRCA2 NM_000059.3(BRCA2): c.7625C> T (p.Thr2542Met) single nucleotide variant Uncertain significance rs80358989 GRCh38 Chromosome 13, 32357749: 32357749

Cosmic variations for Glioma Susceptibility 3:

9 (show top 50) (show all 6792)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM989 SMARCB1 central nervous system,NS,glioma,ependymoma Grade III-IV c.1130G>A p.R377H 22:23834152-23834152 7
2 COSM6289136 SMARCA4 central nervous system,NS,glioma,ependymoma Grade III-IV c.2143G>A p.D715N 19:11010400-11010400 7
3 COSM6958006 RB1 central nervous system,NS,glioma,ependymoma Grade III-IV c.380+2T>C p.? 13:48342716-48342716 7
4 COSM4749148 PTPRS central nervous system,NS,glioma,ependymoma Grade III-IV c.2600G>A p.R867H 19:5223192-5223192 7
5 COSM6968454 PIK3R3 central nervous system,NS,glioma,ependymoma Grade III-IV c.1320C>A p.H440Q 1:46043739-46043739 7
6 COSM6973319 PIK3C3 central nervous system,NS,glioma,ependymoma Grade III-IV c.929A>T p.Y310F 18:41996675-41996675 7
7 COSM23869 NF2 central nervous system,NS,glioma,ependymoma Grade III-IV c.675+1G>A p.? 22:29658265-29658265 7
8 COSM23667 NF2 central nervous system,NS,glioma,ependymoma Grade III-IV c.1396C>T p.R466* 22:29674891-29674891 7
9 COSM24624 NF2 central nervous system,NS,glioma,ependymoma Grade III-IV c.675+5G>A p.? 22:29658269-29658269 7
10 COSM22432 NF2 central nervous system,NS,glioma,ependymoma Grade III-IV c.592C>T p.R198* 22:29655669-29655669 7
11 COSM23159 MEN1 central nervous system,NS,glioma,ependymoma Grade III-IV c.1413G>A p.W471* 11:64804754-64804754 7
12 COSM6968460 KMT2C central nervous system,NS,glioma,ependymoma Grade III-IV c.14594G>A p.G4865E 7:152138845-152138845 7
13 COSM3662778 KMT2C central nervous system,NS,glioma,ependymoma Grade III-IV c.2491A>G p.T831A 7:152247943-152247943 7
14 COSM6968457 FLT4 central nervous system,NS,glioma,ependymoma Grade III-IV c.2105C>A p.A702D 5:180621168-180621168 7
15 COSM6942397 FH central nervous system,NS,glioma,ependymoma Grade III-IV c.258A>C p.E86D 1:241517191-241517191 7
16 COSM22965 FBXW7 central nervous system,NS,glioma,ependymoma Grade III-IV c.1394G>A p.R465H 4:152328232-152328232 7
17 COSM4607064 CDC73 central nervous system,NS,glioma,ependymoma Grade III-IV c.929A>G p.D310G 1:193152401-193152401 7
18 COSM4665537 BCOR central nervous system,NS,glioma,ependymoma Grade III-IV c.1888G>A p.E630K 23:40073458-40073458 7
19 COSM1162555 APC central nervous system,NS,glioma,ependymoma Grade III-IV c.3007G>A p.D1003N 5:112838601-112838601 7
20 COSM1149856 central nervous system,NS,glioma,ependymoma Grade III-IV c.1040G>A p.R347H 4:152328232-152328232 7
21 COSM4749147 central nervous system,NS,glioma,ependymoma Grade III-IV c.2603G>A p.R868H 19:5223192-5223192 7
22 COSM117310 central nervous system,NS,glioma,ependymoma Grade III-IV c.1394G>A p.R465H 4:152328232-152328232 7
23 COSM6914403 central nervous system,NS,glioma,ependymoma Grade III-IV c.2588G>A p.R863H 19:5223192-5223192 7
24 COSM6968458 central nervous system,NS,glioma,ependymoma Grade III-IV c.1535C>A p.A512D 5:180621168-180621168 7
25 COSM6958005 central nervous system,NS,glioma,ependymoma Grade III-IV c.380+2T>C p.? 13:48342716-48342716 7
26 COSM3662777 central nervous system,NS,glioma,ependymoma Grade III-IV c.2491A>G p.T831A 7:152247943-152247943 7
27 COSM4665536 central nervous system,NS,glioma,ependymoma Grade III-IV c.1888G>A p.E630K 23:40073458-40073458 7
28 COSM6968456 central nervous system,NS,glioma,ependymoma Grade III-IV c.2105C>A p.A702D 5:180621168-180621168 7
29 COSM6289135 central nervous system,NS,glioma,ependymoma Grade III-IV c.2143G>A p.D715N 19:11010400-11010400 7
30 COSM1578803 central nervous system,NS,glioma,ependymoma Grade III-IV c.1157G>A p.R386H 22:23834152-23834152 7
31 COSM6968459 central nervous system,NS,glioma,ependymoma Grade III-IV c.14765G>A p.G4922E 7:152138845-152138845 7
32 COSM6968455 central nervous system,NS,glioma,ependymoma Grade III-IV c.1458C>A p.H486Q 1:46043739-46043739 7
33 COSM40802 ZW10 central nervous system,NS,glioma,astrocytoma Grade III c.2140C>T p.P714S 11:113736699-113736699 6
34 COSM40801 ZSWIM4 central nervous system,NS,glioma,astrocytoma Grade III c.266C>T p.P89L 19:13799832-13799832 6
35 COSM6932117 ZRSR2 central nervous system,NS,glioma,astrocytoma Grade III c.271G>A p.E91K 23:15803755-15803755 6
36 COSM6948317 ZRSR2 central nervous system,NS,glioma,astrocytoma Grade III c.340C>T p.Q114* 23:15804138-15804138 6
37 COSM6959574 ZRSR2 central nervous system,NS,glioma,astrocytoma Grade III c.260G>A p.R87K 23:15803744-15803744 6
38 COSM6932118 ZRSR2 central nervous system,NS,glioma,astrocytoma Grade III c.961C>T p.P321S 23:15822754-15822754 6
39 COSM6973162 ZRSR2 central nervous system,NS,glioma,oligodendroglioma Grade III c.220G>A p.E74K 23:15803704-15803704 6
40 COSM39611 ZPLD1 central nervous system,NS,glioma,astrocytoma Grade III c.393A>T p.G131G 3:102456210-102456210 6
41 COSM40237 ZNF687 central nervous system,NS,glioma,astrocytoma Grade III c.3651C>T p.T1217T 1:151291146-151291146 6
42 COSM39318 ZNF687 central nervous system,NS,glioma,astrocytoma Grade III c.2044T>A p.C682S 1:151288335-151288335 6
43 COSM39317 ZNF687 central nervous system,NS,glioma,astrocytoma Grade III c.2043G>C p.Q681H 1:151288334-151288334 6
44 COSM39149 ZNF507 central nervous system,NS,glioma,astrocytoma Grade III c.1517G>C p.R506T 19:32354347-32354347 6
45 COSM40794 ZNF473 central nervous system,NS,glioma,astrocytoma Grade III c.42C>T p.D14D 19:50039193-50039193 6
46 COSM39217 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade III c.2162T>G p.V721G 20:47246130-47246130 6
47 COSM40504 ZMYND8 central nervous system,NS,glioma,astrocytoma Grade III c.2176G>A p.D726N 20:47246116-47246116 6
48 COSM5977723 ZMYM2 central nervous system,NS,glioma,astrocytoma Grade III c.1134-1G>T p.? 13:20005073-20005073 6
49 COSM5977724 ZMYM2 central nervous system,NS,glioma,astrocytoma Grade III c.1134-1G>T p.? 13:20005073-20005073 6
50 COSM39507 ZMAT4 central nervous system,NS,glioma,astrocytoma Grade III c.76G>A p.E26K 8:40825601-40825601 6

Expression for Glioma Susceptibility 3

Search GEO for disease gene expression data for Glioma Susceptibility 3.

Pathways for Glioma Susceptibility 3

GO Terms for Glioma Susceptibility 3

Sources for Glioma Susceptibility 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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