CMM3
MCID: MLN075
MIFTS: 25

Melanoma, Cutaneous Malignant 3 (CMM3)

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

Aliases & Classifications for Melanoma, Cutaneous Malignant 3

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 3:

Name: Melanoma, Cutaneous Malignant 3 57 72
Cutaneous Malignant Melanoma 3 72 29 6
Melanoma, Cutaneous Malignant, 3 57 13
Cmm3 57 72
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 3 39
Melanoma, Cutaneous Malignant, Susceptibility to, 3 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset before 50 years of age


HPO:

31
melanoma, cutaneous malignant 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 609048
OMIM Phenotypic Series 57 PS155600
MeSH 44 D008545
MedGen 41 C1836892

Summaries for Melanoma, Cutaneous Malignant 3

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. (609048) (Updated 05-Apr-2021)

MalaCards based summary : Melanoma, Cutaneous Malignant 3, also known as cutaneous malignant melanoma 3, is related to melanoma. An important gene associated with Melanoma, Cutaneous Malignant 3 is CDK4 (Cyclin Dependent Kinase 4). Related phenotypes are cutaneous melanoma and numerous nevi

UniProtKB/Swiss-Prot : 72 Melanoma, cutaneous malignant 3: 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 3

Diseases in the Melanoma, Cutaneous Malignant 1 family:

Melanoma, Cutaneous Malignant 2 Melanoma, Cutaneous Malignant 4
Melanoma, Cutaneous Malignant 3 Melanoma, Cutaneous Malignant 7
Melanoma, Cutaneous Malignant 5 Melanoma, Cutaneous Malignant 6
Melanoma, Cutaneous Malignant 8 Melanoma, Cutaneous Malignant 9
Melanoma, Cutaneous Malignant 10

Diseases related to Melanoma, Cutaneous Malignant 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 melanoma 10.0

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 3

Human phenotypes related to Melanoma, Cutaneous Malignant 3:

31
# Description HPO Frequency HPO Source Accession
1 cutaneous melanoma 31 HP:0012056
2 numerous nevi 31 HP:0001054
3 atypical nevus 31 HP:0001062
4 atypical nevi in non-sun exposed areas 31 HP:0001074

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
numerous nevi
atypical nevi (>5mm with irregular edge and pigmentation)
atypical nevi often present in non-sun exposed areas

Neoplasia:
malignant melanoma

Clinical features from OMIM®:

609048 (Updated 05-Apr-2021)

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 3

Search Clinical Trials , NIH Clinical Center for Melanoma, Cutaneous Malignant 3

Genetic Tests for Melanoma, Cutaneous Malignant 3

Genetic tests related to Melanoma, Cutaneous Malignant 3:

# Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 3 29 CDK4

Anatomical Context for Melanoma, Cutaneous Malignant 3

Publications for Melanoma, Cutaneous Malignant 3

Articles related to Melanoma, Cutaneous Malignant 3:

# Title Authors PMID Year
1
A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation. 57 6
15880589 2005
2
Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 6 57
9425228 1998
3
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. 6 57
8528263 1996
4
A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. 57 6
7652577 1995
5
[Familial incidence of malignant melanoma]. 6 57
5377176 1969
6
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. 6
23384855 2013
7
MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients. 6
22804906 2012
8
Identification of CDK4 sequences involved in cyclin D1 and p16 binding. 6
9228064 1997
9
MicroRNA Expression in Formalin-Fixed, Paraffin-Embedded Samples of Canine Cutaneous and Oral Melanoma by RT-qPCR. 61
31526125 2019
10
Combination cytotoxic chemotherapy with CCNU, procarbazine, and vincristine in disseminated cutaneous malignant melanoma: 3 years, followup. 61
7379048 1980

Variations for Melanoma, Cutaneous Malignant 3

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 3:

6 (show top 50) (show all 62)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDK4 NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) SNV Pathogenic 16928 rs11547328 GRCh37: 12:58145431-58145431
GRCh38: 12:57751648-57751648
2 CDK4 NM_000075.4(CDK4):c.71G>A (p.Arg24His) SNV risk factor 16929 rs104894340 GRCh37: 12:58145430-58145430
GRCh38: 12:57751647-57751647
3 CDK4 , TSPAN31 NM_000075.4(CDK4):c.763C>T (p.Arg255Cys) SNV Conflicting interpretations of pathogenicity 133877 rs587778188 GRCh37: 12:58143021-58143021
GRCh38: 12:57749238-57749238
4 CDK4 NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) SNV Conflicting interpretations of pathogenicity 135822 rs144890720 GRCh37: 12:58145379-58145379
GRCh38: 12:57751596-57751596
5 CDK4 , TSPAN31 NM_000075.4(CDK4):c.776C>T (p.Ser259Leu) SNV Uncertain significance 127520 rs201617914 GRCh37: 12:58143008-58143008
GRCh38: 12:57749225-57749225
6 CDK4 , TSPAN31 NM_000075.4(CDK4):c.764G>A (p.Arg255His) SNV Uncertain significance 184333 rs144657355 GRCh37: 12:58143020-58143020
GRCh38: 12:57749237-57749237
7 CDK4 , TSPAN31 NM_000075.4(CDK4):c.661G>A (p.Asp221Asn) SNV Uncertain significance 133876 rs587778187 GRCh37: 12:58143259-58143259
GRCh38: 12:57749476-57749476
8 CDK4 NM_000075.4(CDK4):c.625C>T (p.Arg209Cys) SNV Uncertain significance 135825 rs140644696 GRCh37: 12:58144446-58144446
GRCh38: 12:57750663-57750663
9 CDK4 NM_000075.4(CDK4):c.364C>T (p.Arg122Cys) SNV Uncertain significance 133874 rs587778185 GRCh37: 12:58144864-58144864
GRCh38: 12:57751081-57751081
10 CDK4 NM_000075.4(CDK4):c.520G>A (p.Val174Met) SNV Uncertain significance 184906 rs780052789 GRCh37: 12:58144708-58144708
GRCh38: 12:57750925-57750925
11 CDK4 , TSPAN31 NM_000075.4(CDK4):c.898G>A (p.Gly300Ser) SNV Uncertain significance 246400 rs879254241 GRCh37: 12:58142322-58142322
GRCh38: 12:57748539-57748539
12 CDK4 NM_000075.4(CDK4):c.132_143del (p.Gly45_Gly48del) Deletion Uncertain significance 419254 rs749094206 GRCh37: 12:58145358-58145369
GRCh38: 12:57751575-57751586
13 CDK4 , TSPAN31 NM_000075.4(CDK4):c.779T>A (p.Val260Glu) SNV Uncertain significance 182405 rs200215596 GRCh37: 12:58143005-58143005
GRCh38: 12:57749222-57749222
14 CDK4 , TSPAN31 NM_000075.4(CDK4):c.841C>T (p.His281Tyr) SNV Uncertain significance 483309 rs876659522 GRCh37: 12:58142379-58142379
GRCh38: 12:57748596-57748596
15 CDK4 , TSPAN31 NM_000075.4(CDK4):c.689T>C (p.Ile230Thr) SNV Uncertain significance 220339 rs760435132 GRCh37: 12:58143095-58143095
GRCh38: 12:57749312-57749312
16 CDK4 , TSPAN31 NM_000075.4(CDK4):c.747T>C (p.Phe249=) SNV Uncertain significance 309978 rs886049713 GRCh37: 12:58143037-58143037
GRCh38: 12:57749254-57749254
17 CDK4 , TSPAN31 NM_000075.4(CDK4):c.*479T>C SNV Uncertain significance 309970 rs886049710 GRCh37: 12:58141829-58141829
GRCh38: 12:57748046-57748046
18 CDK4 , TSPAN31 NM_000075.4(CDK4):c.*689C>T SNV Uncertain significance 309967 rs886049709 GRCh37: 12:58141619-58141619
GRCh38: 12:57747836-57747836
19 CDK4 , TSPAN31 NM_000075.4(CDK4):c.690T>C (p.Ile230=) SNV Uncertain significance 309979 rs886049714 GRCh37: 12:58143094-58143094
GRCh38: 12:57749311-57749311
20 CDK4 , TSPAN31 NM_000075.4(CDK4):c.*246G>T SNV Uncertain significance 309976 rs763088789 GRCh37: 12:58142062-58142062
GRCh38: 12:57748279-57748279
21 CDK4 , TSPAN31 NM_000075.4(CDK4):c.*319G>A SNV Uncertain significance 309973 rs775370483 GRCh37: 12:58141989-58141989
GRCh38: 12:57748206-57748206
22 CDK4 NM_000075.4(CDK4):c.-100G>T SNV Uncertain significance 309984 rs886049718 GRCh37: 12:58146038-58146038
GRCh38: 12:57752255-57752255
23 CDK4 NM_000075.4(CDK4):c.-54C>T SNV Uncertain significance 309981 rs886049716 GRCh37: 12:58145992-58145992
GRCh38: 12:57752209-57752209
24 CDK4 NM_000075.4(CDK4):c.505_522+5del Deletion Uncertain significance 548744 rs1555201295 GRCh37: 12:58144701-58144723
GRCh38: 12:57750918-57750940
25 CDK4 NM_000075.4(CDK4):c.155G>T (p.Ser52Ile) SNV Uncertain significance 584827 rs760719270 GRCh37: 12:58145346-58145346
GRCh38: 12:57751563-57751563
26 CDK4 NM_000075.4(CDK4):c.133G>C (p.Gly45Arg) SNV Uncertain significance 584828 rs876660318 GRCh37: 12:58145368-58145368
GRCh38: 12:57751585-57751585
27 CDK4 NM_000075.4(CDK4):c.-55A>T SNV Uncertain significance 309982 rs886049717 GRCh37: 12:58145993-58145993
GRCh38: 12:57752210-57752210
28 CDK4 , TSPAN31 NM_000075.4(CDK4):c.*690G>A SNV Uncertain significance 309966 rs886049708 GRCh37: 12:58141618-58141618
GRCh38: 12:57747835-57747835
29 CDK4 , TSPAN31 NM_000075.4(CDK4):c.*734C>T SNV Uncertain significance 882173 GRCh37: 12:58141574-58141574
GRCh38: 12:57747791-57747791
30 CDK4 NM_000075.4(CDK4):c.-74C>T SNV Uncertain significance 882224 GRCh37: 12:58146012-58146012
GRCh38: 12:57752229-57752229
31 CDK4 , TSPAN31 NM_000075.4(CDK4):c.*424G>A SNV Uncertain significance 882420 GRCh37: 12:58141884-58141884
GRCh38: 12:57748101-57748101
32 CDK4 , TSPAN31 NM_000075.4(CDK4):c.*333T>C SNV Uncertain significance 884128 GRCh37: 12:58141975-58141975
GRCh38: 12:57748192-57748192
33 CDK4 , TSPAN31 NM_000075.4(CDK4):c.*271A>G SNV Uncertain significance 884129 GRCh37: 12:58142037-58142037
GRCh38: 12:57748254-57748254
34 CDK4 NM_000075.4(CDK4):c.-123T>G SNV Uncertain significance 309985 rs759319348 GRCh37: 12:58146061-58146061
GRCh38: 12:57752278-57752278
35 CDK4 NM_000075.4(CDK4):c.414C>G (p.His138Gln) SNV Uncertain significance 880834 GRCh37: 12:58144814-58144814
GRCh38: 12:57751031-57751031
36 CDK4 NC_000012.12:g.57752350C>T SNV Uncertain significance 802869 rs1280668662 GRCh37: 12:58146133-58146133
GRCh38: 12:57752350-57752350
37 CDK4 NM_000075.4(CDK4):c.42C>T (p.Val14=) SNV Uncertain significance 186740 rs786203182 GRCh37: 12:58145459-58145459
GRCh38: 12:57751676-57751676
38 CDK4 NM_000075.4(CDK4):c.267A>G (p.Val89=) SNV Uncertain significance 309980 rs886049715 GRCh37: 12:58145077-58145077
GRCh38: 12:57751294-57751294
39 CDK4 NM_000075.4(CDK4):c.126_128AGG[2] (p.Gly48del) Microsatellite Uncertain significance 231912 rs770784286 GRCh37: 12:58145367-58145369
GRCh38: 12:57751584-57751586
40 CDK4 NM_000075.4(CDK4):c.632+9C>T SNV Uncertain significance 463475 rs1192976748 GRCh37: 12:58144430-58144430
GRCh38: 12:57750647-57750647
41 CDK4 NM_000075.4(CDK4):c.19G>A (p.Glu7Lys) SNV Uncertain significance 463463 rs1000052939 GRCh37: 12:58145482-58145482
GRCh38: 12:57751699-57751699
42 CDK4 NM_000075.4(CDK4):c.416G>A (p.Arg139Gln) SNV Uncertain significance 483289 rs763652580 GRCh37: 12:58144812-58144812
GRCh38: 12:57751029-57751029
43 CDK4 NC_000012.12:g.57752476A>G SNV Likely benign 802870 rs865902881 GRCh37: 12:58146259-58146259
GRCh38: 12:57752476-57752476
44 CDK4 NM_000075.4(CDK4):c.523-20A>T SNV Likely benign 802868 rs1595110299 GRCh37: 12:58144568-58144568
GRCh38: 12:57750785-57750785
45 CDK4 NM_000075.4(CDK4):c.14G>A (p.Arg5Gln) SNV Likely benign 419527 rs1031329993 GRCh37: 12:58145487-58145487
GRCh38: 12:57751704-57751704
46 CDK4 , TSPAN31 NM_000075.4(CDK4):c.660C>T (p.Ala220=) SNV Likely benign 387376 rs773490152 GRCh37: 12:58143260-58143260
GRCh38: 12:57749477-57749477
47 CDK4 NM_000075.4(CDK4):c.549C>T (p.Pro183=) SNV Likely benign 186813 rs778696237 GRCh37: 12:58144522-58144522
GRCh38: 12:57750739-57750739
48 CDK4 NM_000075.4(CDK4):c.306A>G (p.Thr102=) SNV Likely benign 184409 rs201202764 GRCh37: 12:58145038-58145038
GRCh38: 12:57751255-57751255
49 CDK4 NM_000075.4(CDK4):c.355-12C>T SNV Likely benign 392783 rs1004281478 GRCh37: 12:58144885-58144885
GRCh38: 12:57751102-57751102
50 CDK4 NM_000075.4(CDK4):c.504G>A (p.Gln168=) SNV Likely benign 463470 rs770086242 GRCh37: 12:58144724-58144724
GRCh38: 12:57750941-57750941

UniProtKB/Swiss-Prot genetic disease variations for Melanoma, Cutaneous Malignant 3:

72
# Symbol AA change Variation ID SNP ID
1 CDK4 p.Arg24Cys VAR_006200 rs11547328
2 CDK4 p.Arg24His VAR_006201 rs104894340
3 CDK4 p.Asn41Ser VAR_021152 rs144890720

Cosmic variations for Melanoma, Cutaneous Malignant 3:

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 3

Search GEO for disease gene expression data for Melanoma, Cutaneous Malignant 3.

Pathways for Melanoma, Cutaneous Malignant 3

GO Terms for Melanoma, Cutaneous Malignant 3

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