CMM9
MCID: MLN077
MIFTS: 20

Melanoma, Cutaneous Malignant 9 (CMM9)

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

Aliases & Classifications for Melanoma, Cutaneous Malignant 9

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 9:

Name: Melanoma, Cutaneous Malignant 9 57 72
Cutaneous Malignant Melanoma 9 72 29 6
Melanoma, Cutaneous Malignant, 9 57 13
Cmm9 57 72
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 9 39
Melanoma, Cutaneous Malignant, Susceptibility to, 9 57

Characteristics:

HPO:

31
melanoma, cutaneous malignant 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615134
OMIM Phenotypic Series 57 PS155600
MeSH 44 D008545
SNOMED-CT via HPO 68 2092003 263681008 372244006

Summaries for Melanoma, Cutaneous Malignant 9

OMIM® : 57 Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of malignant melanoma, see 155600. (615134) (Updated 05-Apr-2021)

MalaCards based summary : Melanoma, Cutaneous Malignant 9, is also known as cutaneous malignant melanoma 9. An important gene associated with Melanoma, Cutaneous Malignant 9 is TERT (Telomerase Reverse Transcriptase). Related phenotype is melanoma.

UniProtKB/Swiss-Prot : 72 Melanoma, cutaneous malignant 9: A malignant neoplasm of melanocytes, arising de novo or from a pre- existing benign nevus, which occurs most often in the skin but also may involve other sites.

Related Diseases for Melanoma, Cutaneous Malignant 9

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 9

Human phenotypes related to Melanoma, Cutaneous Malignant 9:

31
# Description HPO Frequency HPO Source Accession
1 melanoma 31 HP:0002861

Clinical features from OMIM®:

615134 (Updated 05-Apr-2021)

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 9

Search Clinical Trials , NIH Clinical Center for Melanoma, Cutaneous Malignant 9

Genetic Tests for Melanoma, Cutaneous Malignant 9

Genetic tests related to Melanoma, Cutaneous Malignant 9:

# Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 9 29 TERT

Anatomical Context for Melanoma, Cutaneous Malignant 9

Publications for Melanoma, Cutaneous Malignant 9

Articles related to Melanoma, Cutaneous Malignant 9:

# Title Authors PMID Year
1
TERT promoter mutations in familial and sporadic melanoma. 57 6
23348503 2013
2
Highly recurrent TERT promoter mutations in human melanoma. 57
23348506 2013

Variations for Melanoma, Cutaneous Malignant 9

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TERT TERT, -57, T-G, PROMOTER SNV risk factor 41410 GRCh37:
GRCh38:
2 LOC110806263 , TERT NM_198253.3(TERT):c.150G>A (p.Leu50=) SNV Uncertain significance 289326 rs886044153 GRCh37: 5:1294955-1294955
GRCh38: 5:1294840-1294840
3 TERT NM_198253.2(TERT):c.2287-5G>A SNV Uncertain significance 446374 rs561426406 GRCh37: 5:1272400-1272400
GRCh38: 5:1272285-1272285
4 TERT NM_198253.3(TERT):c.1317_1319GGA[2] (p.Glu441del) Microsatellite Uncertain significance 212398 rs377639087 GRCh37: 5:1293676-1293678
GRCh38: 5:1293561-1293563
5 TERT NM_198253.3(TERT):c.508G>A (p.Val170Met) SNV Uncertain significance 36947 rs387907248 GRCh37: 5:1294493-1294493
GRCh38: 5:1294378-1294378
6 LOC110806263 , TERT NM_198253.3(TERT):c.159G>C (p.Gln53His) SNV Uncertain significance 410683 rs1060503006 GRCh37: 5:1294946-1294946
GRCh38: 5:1294831-1294831
7 TERT NM_198253.3(TERT):c.887A>C (p.His296Pro) SNV Uncertain significance 268080 rs778187343 GRCh37: 5:1294114-1294114
GRCh38: 5:1293999-1293999
8 TERT NM_198253.3(TERT):c.1393G>C (p.Val465Leu) SNV Uncertain significance 539202 rs758110675 GRCh37: 5:1293608-1293608
GRCh38: 5:1293493-1293493
9 TERT NM_198253.3(TERT):c.2221G>A (p.Val741Met) SNV Uncertain significance 471857 rs150819225 GRCh37: 5:1278821-1278821
GRCh38: 5:1278706-1278706

Cosmic variations for Melanoma, Cutaneous Malignant 9:

9 (show all 46)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM97107326 NRAS skin,ear,malignant melanoma,NS c.181C>A p.Q61K 1:114713909-114713909 6
2 COSM93665204 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 17:31233157-31233157 6
3 COSM93539965 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 17:31230366-31230366 6
4 COSM93692305 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 17:31230366-31230366 6
5 COSM93519256 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 17:31233157-31233157 6
6 COSM88321369 KIT skin,eye,malignant melanoma,NS c.1459G>A p.G487S 4:54725969-54725969 6
7 COSM99100400 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 6
8 COSM99100596 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 6
9 COSM89609735 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 6
10 COSM135206415 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 6
11 COSM135217389 GRIN2A skin,ear,malignant melanoma,NS c.3773-19C>T p.? 16:9763447-9763447 6
12 COSM131440106 GRIN2A skin,ear,malignant melanoma,NS c.1548G>A p.M516I 16:9829471-9829471 6
13 COSM89609531 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 6
14 COSM135206628 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 6
15 COSM89621238 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 6
16 COSM99112008 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 6
17 COSM131447592 GRIN2A skin,ear,malignant melanoma,NS c.3362-19C>T p.? 16:9763447-9763447 6
18 COSM131440017 GRIN2A skin,ear,malignant melanoma,NS c.2806G>A p.E936K 16:9764327-9764327 6
19 COSM97223158 CNR1 skin,ear,malignant melanoma,NS c.103+42C>T p.? 6:88145130-88145130 6
20 COSM152018575 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 6
21 COSM108059286 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 6
22 COSM117327995 CNR1 skin,ear,malignant melanoma,NS c.63-17C>T p.? 6:88145130-88145130 6
23 COSM96983478 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 6
24 COSM96990932 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 6
25 COSM87493313 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 1:239909192-239909192 6
26 COSM144455643 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 1:239909192-239909192 6
27 COSM149414554 BRAF skin,ear,malignant melanoma,NS c.1910T>G p.L637R 7:140753345-140753345 6
28 COSM150563774 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 6
29 COSM150564452 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7:140753334-140753334 6
30 COSM88812698 BRAF skin,ear,malignant melanoma,NS c.1910T>A p.L637Q 7:140753345-140753345 6
31 COSM118795694 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7:140753345-140753345 6
32 COSM88803061 BRAF skin,ear,malignant melanoma,NS c.1919T>A p.V640E 7:140753336-140753336 6
33 COSM118813778 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 6
34 COSM88806346 BRAF skin,ear,malignant melanoma,NS c.1900G>A p.D634N 7:140753355-140753355 6
35 COSM118790577 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 6
36 COSM150570620 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7:140753345-140753345 6
37 COSM150565869 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 6
38 COSM118787231 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 6
39 COSM150585368 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 6
40 COSM149385292 BRAF skin,ear,malignant melanoma,NS c.1919T>A p.V640E 7:140753336-140753336 6
41 COSM149386940 BRAF skin,ear,malignant melanoma,NS c.1921A>G p.K641E 7:140753334-140753334 6
42 COSM149388933 BRAF skin,ear,malignant melanoma,NS c.1900G>A p.D634N 7:140753355-140753355 6
43 COSM88834639 BRAF skin,ear,malignant melanoma,NS c.1910T>G p.L637R 7:140753345-140753345 6
44 COSM118788384 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7:140753334-140753334 6
45 COSM149394818 BRAF skin,ear,malignant melanoma,NS c.1910T>A p.L637Q 7:140753345-140753345 6
46 COSM88804430 BRAF skin,ear,malignant melanoma,NS c.1921A>G p.K641E 7:140753334-140753334 6

Expression for Melanoma, Cutaneous Malignant 9

Search GEO for disease gene expression data for Melanoma, Cutaneous Malignant 9.

Pathways for Melanoma, Cutaneous Malignant 9

GO Terms for Melanoma, Cutaneous Malignant 9

Sources for Melanoma, Cutaneous Malignant 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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