CMM5
MCID: MLN076
MIFTS: 22

Melanoma, Cutaneous Malignant 5 (CMM5)

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

Aliases & Classifications for Melanoma, Cutaneous Malignant 5

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 5:

Name: Melanoma, Cutaneous Malignant 5 57 72
Cutaneous Malignant Melanoma 5 72 29 6
Melanoma, Cutaneous Malignant, 5 57 13
Cmm5 57 72
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 5 39
Melanoma, Cutaneous Malignant, Susceptibility to, 5 57

Classifications:



External Ids:

OMIM® 57 613099
OMIM Phenotypic Series 57 PS155600
MeSH 44 D008545
MedGen 41 C2751295

Summaries for Melanoma, Cutaneous Malignant 5

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. (613099) (Updated 05-Apr-2021)

MalaCards based summary : Melanoma, Cutaneous Malignant 5, is also known as cutaneous malignant melanoma 5. An important gene associated with Melanoma, Cutaneous Malignant 5 is MC1R (Melanocortin 1 Receptor).

UniProtKB/Swiss-Prot : 72 Melanoma, cutaneous malignant 5: 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 5

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 5

Clinical features from OMIM®:

613099 (Updated 05-Apr-2021)

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 5

Search Clinical Trials , NIH Clinical Center for Melanoma, Cutaneous Malignant 5

Genetic Tests for Melanoma, Cutaneous Malignant 5

Genetic tests related to Melanoma, Cutaneous Malignant 5:

# Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 5 29 MC1R

Anatomical Context for Melanoma, Cutaneous Malignant 5

Publications for Melanoma, Cutaneous Malignant 5

Articles related to Melanoma, Cutaneous Malignant 5:

# Title Authors PMID Year
1
The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. 6 57
8894704 1996
2
Genome-wide association study identifies three loci associated with melanoma risk. 57
19578364 2009
3
MC1R germline variants confer risk for BRAF-mutant melanoma. 57
16809487 2006
4
Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma. 57
11500806 2001
5
MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. 57
11500805 2001
6
Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? 57
10631149 2000
7
[Late metastases of abdominal cutaneous malignant melanoma in the small and large bowels]. 61
16265872 2005

Variations for Melanoma, Cutaneous Malignant 5

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 5:

6 (show top 50) (show all 274)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MC1R NM_002386.3(MC1R):c.169G>A (p.Ala57Thr) SNV Conflicting interpretations of pathogenicity 321419 rs201632257 GRCh37: 16:89985835-89985835
GRCh38: 16:89919427-89919427
2 MC1R NM_002386.3(MC1R):c.861C>G (p.Ile287Met) SNV Conflicting interpretations of pathogenicity 406210 rs373957223 GRCh37: 16:89986527-89986527
GRCh38: 16:89920119-89920119
3 MC1R NM_002386.3(MC1R):c.667C>T (p.Arg223Trp) SNV Conflicting interpretations of pathogenicity 406213 rs372152373 GRCh37: 16:89986333-89986333
GRCh38: 16:89919925-89919925
4 MC1R NM_002386.3(MC1R):c.492C>T (p.Ala164=) SNV Conflicting interpretations of pathogenicity 696036 rs367985661 GRCh37: 16:89986158-89986158
GRCh38: 16:89919750-89919750
5 MC1R NM_002386.3(MC1R):c.101G>A (p.Arg34Gln) SNV Conflicting interpretations of pathogenicity 321418 rs369016553 GRCh37: 16:89985767-89985767
GRCh38: 16:89919359-89919359
6 MC1R NM_002386.3(MC1R):c.325C>T (p.Arg109Trp) SNV Conflicting interpretations of pathogenicity 321426 rs546618600 GRCh37: 16:89985991-89985991
GRCh38: 16:89919583-89919583
7 MC1R NM_002386.3(MC1R):c.332C>T (p.Ala111Val) SNV Conflicting interpretations of pathogenicity 470704 rs201489928 GRCh37: 16:89985998-89985998
GRCh38: 16:89919590-89919590
8 MC1R NM_002386.3(MC1R):c.359T>C (p.Ile120Thr) SNV Conflicting interpretations of pathogenicity 225411 rs33932559 GRCh37: 16:89986025-89986025
GRCh38: 16:89919617-89919617
9 MC1R NM_002386.3(MC1R):c.917G>A (p.Arg306His) SNV Conflicting interpretations of pathogenicity 470716 rs368507952 GRCh37: 16:89986583-89986583
GRCh38: 16:89920175-89920175
10 MC1R NM_002386.4(MC1R):c.815C>T (p.Thr272Met) SNV Conflicting interpretations of pathogenicity 841072 GRCh37: 16:89986481-89986481
GRCh38: 16:89920073-89920073
11 MC1R NM_002386.3(MC1R):c.652G>A (p.Ala218Thr) SNV Conflicting interpretations of pathogenicity 321437 rs200965363 GRCh37: 16:89986318-89986318
GRCh38: 16:89919910-89919910
12 MC1R NM_002386.3(MC1R):c.556G>A (p.Val186Met) SNV Conflicting interpretations of pathogenicity 321432 rs773260532 GRCh37: 16:89986222-89986222
GRCh38: 16:89919814-89919814
13 MC1R NM_002386.3(MC1R):c.456C>A (p.Tyr152Ter) SNV Conflicting interpretations of pathogenicity 265230 rs201326893 GRCh37: 16:89986122-89986122
GRCh38: 16:89919714-89919714
14 MC1R NM_002386.3(MC1R):c.832A>G (p.Lys278Glu) SNV Conflicting interpretations of pathogenicity 406214 rs201171524 GRCh37: 16:89986498-89986498
GRCh38: 16:89920090-89920090
15 MC1R NM_002386.3(MC1R):c.637C>T (p.Arg213Trp) SNV Conflicting interpretations of pathogenicity 321435 rs200000734 GRCh37: 16:89986303-89986303
GRCh38: 16:89919895-89919895
16 MC1R NM_002386.3(MC1R):c.537dup (p.Ile180fs) Duplication Uncertain significance 470706 rs555179612 GRCh37: 16:89986202-89986203
GRCh38: 16:89919794-89919795
17 MC1R NM_002386.3(MC1R):c.725C>T (p.Thr242Ile) SNV Uncertain significance 470710 rs200051702 GRCh37: 16:89986391-89986391
GRCh38: 16:89919983-89919983
18 MC1R NM_002386.3(MC1R):c.613G>A (p.Val205Met) SNV Uncertain significance 470708 rs749525002 GRCh37: 16:89986279-89986279
GRCh38: 16:89919871-89919871
19 MC1R NM_002386.3(MC1R):c.248C>T (p.Ser83Leu) SNV Uncertain significance 470703 rs777024553 GRCh37: 16:89985914-89985914
GRCh38: 16:89919506-89919506
20 MC1R NM_002386.3(MC1R):c.836A>G (p.Asn279Ser) SNV Uncertain significance 573886 rs376692024 GRCh37: 16:89986502-89986502
GRCh38: 16:89920094-89920094
21 MC1R NM_002386.3(MC1R):c.659G>A (p.Gly220Asp) SNV Uncertain significance 576066 rs1567758442 GRCh37: 16:89986325-89986325
GRCh38: 16:89919917-89919917
22 MC1R NM_002386.3(MC1R):c.112G>A (p.Val38Met) SNV Uncertain significance 406211 rs200050206 GRCh37: 16:89985778-89985778
GRCh38: 16:89919370-89919370
23 MC1R NM_002386.3(MC1R):c.310G>A (p.Gly104Ser) SNV Uncertain significance 654648 rs2229617 GRCh37: 16:89985976-89985976
GRCh38: 16:89919568-89919568
24 MC1R NM_002386.4(MC1R):c.898T>G (p.Phe300Val) SNV Uncertain significance 862255 GRCh37: 16:89986564-89986564
GRCh38: 16:89920156-89920156
25 MC1R NM_002386.4(MC1R):c.100C>T (p.Arg34Trp) SNV Uncertain significance 885665 GRCh37: 16:89985766-89985766
GRCh38: 16:89919358-89919358
26 MC1R NM_002386.4(MC1R):c.445G>A (p.Ala149Thr) SNV Uncertain significance 1037091 GRCh37: 16:89986111-89986111
GRCh38: 16:89919703-89919703
27 MC1R NM_002386.4(MC1R):c.476C>T (p.Pro159Leu) SNV Uncertain significance 1037323 GRCh37: 16:89986142-89986142
GRCh38: 16:89919734-89919734
28 MC1R NM_002386.4(MC1R):c.664G>T (p.Ala222Ser) SNV Uncertain significance 1039095 GRCh37: 16:89986330-89986330
GRCh38: 16:89919922-89919922
29 MC1R NM_002386.4(MC1R):c.862A>G (p.Ile288Val) SNV Uncertain significance 1039453 GRCh37: 16:89986528-89986528
GRCh38: 16:89920120-89920120
30 MC1R NM_002386.3(MC1R):c.670C>T (p.Leu224Phe) SNV Uncertain significance 568821 rs772601310 GRCh37: 16:89986336-89986336
GRCh38: 16:89919928-89919928
31 MC1R NM_002386.3(MC1R):c.790A>C (p.Ile264Leu) SNV Uncertain significance 582092 rs1044424142 GRCh37: 16:89986456-89986456
GRCh38: 16:89920048-89920048
32 MC1R NM_002386.3(MC1R):c.504C>G (p.Ile168Met) SNV Uncertain significance 645959 rs34612847 GRCh37: 16:89986170-89986170
GRCh38: 16:89919762-89919762
33 MC1R NM_002386.4(MC1R):c.755T>A (p.Leu252His) SNV Uncertain significance 841633 GRCh37: 16:89986421-89986421
GRCh38: 16:89920013-89920013
34 MC1R NM_002386.4(MC1R):c.409G>A (p.Ala137Thr) SNV Uncertain significance 845572 GRCh37: 16:89986075-89986075
GRCh38: 16:89919667-89919667
35 MC1R NM_002386.4(MC1R):c.880G>A (p.Asp294Asn) SNV Uncertain significance 861058 GRCh37: 16:89986546-89986546
GRCh38: 16:89920138-89920138
36 MC1R NM_002386.4(MC1R):c.104G>T (p.Cys35Phe) SNV Uncertain significance 948040 GRCh37: 16:89985770-89985770
GRCh38: 16:89919362-89919362
37 MC1R NM_002386.4(MC1R):c.383T>C (p.Met128Thr) SNV Uncertain significance 887938 GRCh37: 16:89986049-89986049
GRCh38: 16:89919641-89919641
38 MC1R NM_002386.4(MC1R):c.169dup (p.Ala57fs) Duplication Uncertain significance 1014326 GRCh37: 16:89985834-89985835
GRCh38: 16:89919426-89919427
39 MC1R NC_000016.9:g.(?_89985667)_(89986620_?)dup Duplication Uncertain significance 1015048 GRCh37: 16:89985667-89986620
GRCh38:
40 MC1R NM_002386.4(MC1R):c.7G>A (p.Val3Met) SNV Uncertain significance 1017545 GRCh37: 16:89985673-89985673
GRCh38: 16:89919265-89919265
41 MC1R NM_002386.4(MC1R):c.424C>A (p.Arg142Ser) SNV Uncertain significance 1017852 GRCh37: 16:89986090-89986090
GRCh38: 16:89919682-89919682
42 MC1R NM_002386.4(MC1R):c.916C>T (p.Arg306Cys) SNV Uncertain significance 1018447 GRCh37: 16:89986582-89986582
GRCh38: 16:89920174-89920174
43 MC1R NM_002386.4(MC1R):c.727C>G (p.Leu243Val) SNV Uncertain significance 1018793 GRCh37: 16:89986393-89986393
GRCh38: 16:89919985-89919985
44 MC1R NM_002386.4(MC1R):c.813del (p.Thr272fs) Deletion Uncertain significance 1020358 GRCh37: 16:89986476-89986476
GRCh38: 16:89920068-89920068
45 MC1R NM_002386.3(MC1R):c.860T>G (p.Ile287Ser) SNV Uncertain significance 406216 rs753749977 GRCh37: 16:89986526-89986526
GRCh38: 16:89920118-89920118
46 MC1R NM_002386.3(MC1R):c.20A>G (p.Gln7Arg) SNV Uncertain significance 406215 rs781549818 GRCh37: 16:89985686-89985686
GRCh38: 16:89919278-89919278
47 MC1R NM_002386.3(MC1R):c.112G>A (p.Val38Met) SNV Uncertain significance 406211 rs200050206 GRCh37: 16:89985778-89985778
GRCh38: 16:89919370-89919370
48 MC1R NM_002386.3(MC1R):c.86dup (p.Asn29fs) Duplication Uncertain significance 239162 rs796296176 GRCh37: 16:89985750-89985751
GRCh38: 16:89919342-89919343
49 MC1R NM_002386.4(MC1R):c.653C>G (p.Ala218Gly) SNV Uncertain significance 886733 GRCh37: 16:89986319-89986319
GRCh38: 16:89919911-89919911
50 MC1R NM_002386.4(MC1R):c.946T>C (p.Ser316Pro) SNV Uncertain significance 1000688 GRCh37: 16:89986612-89986612
GRCh38: 16:89920204-89920204

UniProtKB/Swiss-Prot genetic disease variations for Melanoma, Cutaneous Malignant 5:

72
# Symbol AA change Variation ID SNP ID
1 MC1R p.Val38Met VAR_059018 rs200050206
2 MC1R p.Ser41Phe VAR_059019
3 MC1R p.Val51Ala VAR_059020 rs766080391
4 MC1R p.Met128Thr VAR_059022 rs374235260
5 MC1R p.Cys289Arg VAR_059025 rs369542041

Cosmic variations for Melanoma, Cutaneous Malignant 5:

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 5

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