MCID: MLN067
MIFTS: 20

Melanoma, Cutaneous Malignant 2

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

Aliases & Classifications for Melanoma, Cutaneous Malignant 2

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 2:

Name: Melanoma, Cutaneous Malignant 2 57 75
Cutaneous Malignant Melanoma 2 75 29 6
Melanoma, Cutaneous Malignant, 2 57 13
Cmm2 57 75
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 2 40
Melanoma, Cutaneous Malignant, Susceptibility to, 2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
melanoma, cutaneous malignant 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 155601
MedGen 42 C1835044
MeSH 44 D008545
SNOMED-CT via HPO 69 263681008 2092003 372244006

Summaries for Melanoma, Cutaneous Malignant 2

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 cutaneous malignant melanoma, see CMM1 (155600). (155601)

MalaCards based summary : Melanoma, Cutaneous Malignant 2, is also known as cutaneous malignant melanoma 2. An important gene associated with Melanoma, Cutaneous Malignant 2 is CDKN2A (Cyclin Dependent Kinase Inhibitor 2A). Affiliated tissues include skin and eye, and related phenotype is cutaneous melanoma.

UniProtKB/Swiss-Prot : 75 Melanoma, cutaneous malignant 2: 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 2

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 2

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
malignant melanoma

Laboratory Abnormalities:
frequent deletions of chromosome 9 in melanoma


Clinical features from OMIM:

155601

Human phenotypes related to Melanoma, Cutaneous Malignant 2:

32
# Description HPO Frequency HPO Source Accession
1 cutaneous melanoma 32 HP:0012056

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phosphorus 32 in Treating Patients With Glioblastoma Multiforme Unknown status NCT00004129 Phase 1

Search NIH Clinical Center for Melanoma, Cutaneous Malignant 2

Genetic Tests for Melanoma, Cutaneous Malignant 2

Genetic tests related to Melanoma, Cutaneous Malignant 2:

# Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 2 29 CDKN2A

Anatomical Context for Melanoma, Cutaneous Malignant 2

MalaCards organs/tissues related to Melanoma, Cutaneous Malignant 2:

41
Skin, Eye

Publications for Melanoma, Cutaneous Malignant 2

Variations for Melanoma, Cutaneous Malignant 2

UniProtKB/Swiss-Prot genetic disease variations for Melanoma, Cutaneous Malignant 2:

75 (show all 35)
# Symbol AA change Variation ID SNP ID
1 CDKN2A p.Arg24Cys VAR_001413
2 CDKN2A p.Arg24Pro VAR_001414 rs104894097
3 CDKN2A p.Leu32Pro VAR_001416 rs878853650
4 CDKN2A p.Gly35Ala VAR_001418 rs746834149
5 CDKN2A p.Gly35Glu VAR_001419 rs746834149
6 CDKN2A p.Pro48Leu VAR_001420
7 CDKN2A p.Gln50Arg VAR_001423 rs587778189
8 CDKN2A p.Met53Ile VAR_001424 rs104894095
9 CDKN2A p.Val59Gly VAR_001427 rs104894099
10 CDKN2A p.Leu62Pro VAR_001430
11 CDKN2A p.Ala68Leu VAR_001432 rs876658534
12 CDKN2A p.Asn71Lys VAR_001437
13 CDKN2A p.Asp84Tyr VAR_001449 rs11552822
14 CDKN2A p.Arg87Pro VAR_001451 rs878853647
15 CDKN2A p.Gly89Asp VAR_001453 rs137854599
16 CDKN2A p.Gly89Ser VAR_001454 rs137854597
17 CDKN2A p.Leu97Arg VAR_001457
18 CDKN2A p.His98Pro VAR_001458
19 CDKN2A p.His98Gln VAR_001459
20 CDKN2A p.Arg99Pro VAR_001460
21 CDKN2A p.Ala100Leu VAR_001462
22 CDKN2A p.Gly101Trp VAR_001464 rs104894094
23 CDKN2A p.Arg107Cys VAR_001466
24 CDKN2A p.Leu117Met VAR_001471
25 CDKN2A p.Ala118Thr VAR_001472
26 CDKN2A p.Val126Asp VAR_001479 rs104894098
27 CDKN2A p.Arg87Trp VAR_012317 rs749714198
28 CDKN2A p.Leu94Gln VAR_023604
29 CDKN2A p.Gly122Arg VAR_035069 rs113798404
30 CDKN2A p.Gly35Val VAR_058551
31 CDKN2A p.Gly67Arg VAR_058553 rs758389471
32 CDKN2A p.Asp74Tyr VAR_058555 rs760640852
33 CDKN2A p.Thr77Pro VAR_058556
34 CDKN2A p.Arg80Pro VAR_058557
35 CDKN2A p.Pro81Thr VAR_058558

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 2:

6
(show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDKN2A NM_000077.4(CDKN2A): c.265G> A (p.Gly89Ser) single nucleotide variant risk factor rs137854597 GRCh37 Chromosome 9, 21971093: 21971093
2 CDKN2A NM_000077.4(CDKN2A): c.265G> A (p.Gly89Ser) single nucleotide variant risk factor rs137854597 GRCh38 Chromosome 9, 21971094: 21971094
3 CDKN2A NM_000077.4(CDKN2A): c.238C> T (p.Arg80Ter) single nucleotide variant Likely pathogenic,risk factor rs121913388 GRCh37 Chromosome 9, 21971120: 21971120
4 CDKN2A NM_000077.4(CDKN2A): c.238C> T (p.Arg80Ter) single nucleotide variant Likely pathogenic,risk factor rs121913388 GRCh38 Chromosome 9, 21971121: 21971121
5 CDKN2A NM_000077.4(CDKN2A): c.238C> T (p.Arg80Ter) single nucleotide variant Likely pathogenic,risk factor rs121913388 NCBI36 Chromosome 9, 21961120: 21961120
6 CDKN2A NM_000077.4(CDKN2A): c.226_244del19 (p.Ala76Cysfs) deletion Pathogenic,risk factor rs587776716 GRCh37 Chromosome 9, 21971114: 21971132
7 CDKN2A NM_000077.4(CDKN2A): c.226_244del19 (p.Ala76Cysfs) deletion Pathogenic,risk factor rs587776716 GRCh38 Chromosome 9, 21971115: 21971133
8 CDKN2A CDKN2A, 6-BP DEL, NT363 deletion risk factor
9 CDKN2A NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp) single nucleotide variant risk factor rs104894094 GRCh37 Chromosome 9, 21971057: 21971057
10 CDKN2A NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp) single nucleotide variant risk factor rs104894094 GRCh38 Chromosome 9, 21971058: 21971058
11 CDKN2A CDKN2A, 3-BP DUP, ARG105INS duplication risk factor
12 CDKN2A NM_000077.4(CDKN2A): c.159G> C (p.Met53Ile) single nucleotide variant Pathogenic rs104894095 GRCh37 Chromosome 9, 21971199: 21971199
13 CDKN2A NM_000077.4(CDKN2A): c.159G> C (p.Met53Ile) single nucleotide variant Pathogenic rs104894095 GRCh38 Chromosome 9, 21971200: 21971200
14 CDKN2A NM_000077.4(CDKN2A): c.71G> C (p.Arg24Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894097 GRCh37 Chromosome 9, 21974756: 21974756
15 CDKN2A NM_000077.4(CDKN2A): c.71G> C (p.Arg24Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894097 GRCh38 Chromosome 9, 21974757: 21974757
16 CDKN2A CDKN2A, -34G-T single nucleotide variant risk factor
17 CDKN2A NM_000077.4(CDKN2A): c.377T> A (p.Val126Asp) single nucleotide variant Pathogenic rs104894098 GRCh37 Chromosome 9, 21970981: 21970981
18 CDKN2A NM_000077.4(CDKN2A): c.377T> A (p.Val126Asp) single nucleotide variant Pathogenic rs104894098 GRCh38 Chromosome 9, 21970982: 21970982
19 CDKN2A CDKN2A, IVS2, A-G, -105 single nucleotide variant risk factor
20 CDKN2A NM_000077.4(CDKN2A): c.364G> C (p.Gly122Arg) single nucleotide variant risk factor rs113798404 GRCh37 Chromosome 9, 21970994: 21970994
21 CDKN2A NM_000077.4(CDKN2A): c.364G> C (p.Gly122Arg) single nucleotide variant risk factor rs113798404 GRCh38 Chromosome 9, 21970995: 21970995
22 CDKN2A NM_000077.4(CDKN2A): c.176T> G (p.Val59Gly) single nucleotide variant Likely pathogenic rs104894099 GRCh37 Chromosome 9, 21971182: 21971182
23 CDKN2A NM_000077.4(CDKN2A): c.176T> G (p.Val59Gly) single nucleotide variant Likely pathogenic rs104894099 GRCh38 Chromosome 9, 21971183: 21971183
24 CDKN2A NM_000077.4(CDKN2A): c.339_340delGCinsCT (p.Pro114Ser) indel Pathogenic rs387906410 GRCh37 Chromosome 9, 21971018: 21971019
25 CDKN2A NM_000077.4(CDKN2A): c.339_340delGCinsCT (p.Pro114Ser) indel Pathogenic rs387906410 GRCh38 Chromosome 9, 21971019: 21971020
26 CDKN2A NM_000077.4(CDKN2A): c.167G> T (p.Ser56Ile) single nucleotide variant Pathogenic rs104894109 GRCh37 Chromosome 9, 21971191: 21971191
27 CDKN2A NM_000077.4(CDKN2A): c.167G> T (p.Ser56Ile) single nucleotide variant Pathogenic rs104894109 GRCh38 Chromosome 9, 21971192: 21971192
28 CDKN2A NM_000077.4(CDKN2A): c.266G> A (p.Gly89Asp) single nucleotide variant risk factor rs137854599 GRCh37 Chromosome 9, 21971092: 21971092
29 CDKN2A NM_000077.4(CDKN2A): c.266G> A (p.Gly89Asp) single nucleotide variant risk factor rs137854599 GRCh38 Chromosome 9, 21971093: 21971093
30 CDKN2A CDKN2A, IVS1BDS, A-G, +1 single nucleotide variant risk factor
31 CDKN2A CDKN2A, ARG54HIS single nucleotide variant risk factor
32 CDKN2A NM_001195132.1(CDKN2A) duplication Pathogenic/Likely pathogenic,risk factor rs587780668 GRCh37 Chromosome 9, 21974795: 21974818
33 CDKN2A NM_001195132.1(CDKN2A) duplication Pathogenic/Likely pathogenic,risk factor rs587780668 GRCh38 Chromosome 9, 21974796: 21974819

Cosmic variations for Melanoma, Cutaneous Malignant 2:

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 5
2 COSM5049807 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 17:31230366-31230366 5
3 COSM5049808 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 17:31233157-31233157 5
4 COSM1651647 KIT skin,eye,malignant melanoma,NS c.1459G>A p.G487S 4:54725969-54725969 5
5 COSM110485 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 16:9764327-9764327 5
6 COSM109660 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 16:9763447-9763447 5
7 COSM106626 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 16:9829471-9829471 5
8 COSM141892 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 6:88145130-88145130 5
9 COSM141856 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 1:239909192-239909192 5
10 COSM471 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7:140753345-140753345 5
11 COSM27639 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7:140753355-140753355 5
12 COSM476 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7:140753336-140753336 5
13 COSM1125 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7:140753345-140753345 5
14 COSM478 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7:140753334-140753334 5

Expression for Melanoma, Cutaneous Malignant 2

Search GEO for disease gene expression data for Melanoma, Cutaneous Malignant 2.

Pathways for Melanoma, Cutaneous Malignant 2

GO Terms for Melanoma, Cutaneous Malignant 2

Sources for Melanoma, Cutaneous Malignant 2

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74 UMLS via Orphanet
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