CMM9
MCID: MLN077
MIFTS: 17

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 58 76
Cutaneous Malignant Melanoma 9 76 30 6
Melanoma, Cutaneous Malignant, 9 58 13
Cmm9 58 76
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 9 41
Melanoma, Cutaneous Malignant, Susceptibility to, 9 58

Characteristics:

HPO:

33
melanoma, cutaneous malignant 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 615134
MeSH 45 D008545
SNOMED-CT via HPO 70 2092003 263681008 372244006

Summaries for Melanoma, Cutaneous Malignant 9

OMIM : 58 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)

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). Affiliated tissues include skin and eye, and related phenotype is melanoma.

UniProtKB/Swiss-Prot : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 melanoma 33 HP:0002861

Clinical features from OMIM:

615134

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 30 TERT

Anatomical Context for Melanoma, Cutaneous Malignant 9

MalaCards organs/tissues related to Melanoma, Cutaneous Malignant 9:

42
Skin, Eye

Publications for Melanoma, Cutaneous Malignant 9

Articles related to Melanoma, Cutaneous Malignant 9:

# Title Authors Year
1
TERT promoter mutations in familial and sporadic melanoma. ( 23348503 )
2013

Variations for Melanoma, Cutaneous Malignant 9

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 9:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 TERT NM_198253.2(TERT): c.508G> A (p.Val170Met) single nucleotide variant Uncertain significance rs387907248 GRCh37 Chromosome 5, 1294493: 1294493
2 TERT NM_198253.2(TERT): c.508G> A (p.Val170Met) single nucleotide variant Uncertain significance rs387907248 GRCh38 Chromosome 5, 1294378: 1294378
3 TERT TERT, -57, T-G single nucleotide variant risk factor
4 TERT NM_198253.2(TERT): c.1323_1325delGGA (p.Glu441del) deletion Conflicting interpretations of pathogenicity rs377639087 GRCh37 Chromosome 5, 1293676: 1293678
5 TERT NM_198253.2(TERT): c.1323_1325delGGA (p.Glu441del) deletion Conflicting interpretations of pathogenicity rs377639087 GRCh38 Chromosome 5, 1293561: 1293563
6 TERT NM_001193376.1(TERT): c.887A> C (p.His296Pro) single nucleotide variant Uncertain significance rs778187343 GRCh38 Chromosome 5, 1293999: 1293999
7 TERT NM_001193376.1(TERT): c.887A> C (p.His296Pro) single nucleotide variant Uncertain significance rs778187343 GRCh37 Chromosome 5, 1294114: 1294114
8 TERT NM_198253.2(TERT): c.150G> A (p.Leu50=) single nucleotide variant Uncertain significance rs886044153 GRCh37 Chromosome 5, 1294955: 1294955
9 TERT NM_198253.2(TERT): c.150G> A (p.Leu50=) single nucleotide variant Uncertain significance rs886044153 GRCh38 Chromosome 5, 1294840: 1294840
10 TERT NM_198253.2(TERT): c.159G> C (p.Gln53His) single nucleotide variant Uncertain significance rs1060503006 GRCh37 Chromosome 5, 1294946: 1294946
11 TERT NM_198253.2(TERT): c.159G> C (p.Gln53His) single nucleotide variant Uncertain significance rs1060503006 GRCh38 Chromosome 5, 1294831: 1294831
12 TERT NM_198253.2(TERT): c.2287-5G> A single nucleotide variant Uncertain significance rs561426406 GRCh37 Chromosome 5, 1272400: 1272400
13 TERT NM_198253.2(TERT): c.2287-5G> A single nucleotide variant Uncertain significance rs561426406 GRCh38 Chromosome 5, 1272285: 1272285
14 TERT NM_198253.2(TERT): c.2221G> A (p.Val741Met) single nucleotide variant Uncertain significance rs150819225 GRCh38 Chromosome 5, 1278706: 1278706
15 TERT NM_198253.2(TERT): c.2221G> A (p.Val741Met) single nucleotide variant Uncertain significance rs150819225 GRCh37 Chromosome 5, 1278821: 1278821
16 TERT NM_198253.2(TERT): c.1393G> C (p.Val465Leu) single nucleotide variant Uncertain significance rs758110675 GRCh38 Chromosome 5, 1293493: 1293493
17 TERT NM_198253.2(TERT): c.1393G> C (p.Val465Leu) single nucleotide variant Uncertain significance rs758110675 GRCh37 Chromosome 5, 1293608: 1293608

Cosmic variations for Melanoma, Cutaneous Malignant 9:

9 (show all 14)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM580 NRAS skin,ear,malignant melanoma,NS c.181C>A p.Q61K 1:114713909-114713909 0
2 COSM5049807 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 17:31230366-31230366 0
3 COSM5049808 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 17:31233157-31233157 0
4 COSM1651647 KIT skin,eye,malignant melanoma,NS c.1459G>A p.G487S 4:54725969-54725969 0
5 COSM109660 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 0
6 COSM106626 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 0
7 COSM110485 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 0
8 COSM141892 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 0
9 COSM141856 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 1:239909192-239909192 0
10 COSM471 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 0
11 COSM27639 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 0
12 COSM476 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 0
13 COSM1125 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7:140753345-140753345 0
14 COSM478 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7:140753334-140753334 0

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
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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