MCID: MLN076
MIFTS: 16

Melanoma, Cutaneous Malignant 5

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

Aliases & Classifications for Melanoma, Cutaneous Malignant 5

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 5:

Name: Melanoma, Cutaneous Malignant 5 57 75
Cutaneous Malignant Melanoma 5 75 29 6
Melanoma, Cutaneous Malignant, 5 57 13
Cmm5 57 75
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 5 40
Melanoma, Cutaneous Malignant, Susceptibility to, 5 57

Classifications:



External Ids:

OMIM 57 613099
MedGen 42 C2751295
MeSH 44 D008545

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)

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). Affiliated tissues include skin and eye.

UniProtKB/Swiss-Prot : 75 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

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

MalaCards organs/tissues related to Melanoma, Cutaneous Malignant 5:

41
Skin, Eye

Publications for Melanoma, Cutaneous Malignant 5

Variations for Melanoma, Cutaneous Malignant 5

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

75
# 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

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 5:

6
(show top 50) (show all 134)
# Gene Variation Type Significance SNP ID Assembly Location
1 MC1R NM_002386.3(MC1R): c.252C> A (p.Asp84Glu) single nucleotide variant risk factor rs1805006 GRCh37 Chromosome 16, 89985918: 89985918
2 MC1R NM_002386.3(MC1R): c.252C> A (p.Asp84Glu) single nucleotide variant risk factor rs1805006 GRCh38 Chromosome 16, 89919510: 89919510
3 MC1R NM_002386.3(MC1R): c.359T> C (p.Ile120Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs33932559 GRCh38 Chromosome 16, 89919617: 89919617
4 MC1R NM_002386.3(MC1R): c.359T> C (p.Ile120Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs33932559 GRCh37 Chromosome 16, 89986025: 89986025
5 MC1R NM_002386.3(MC1R): c.67C> T (p.Gln23Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs201533137 GRCh37 Chromosome 16, 89985733: 89985733
6 MC1R NM_002386.3(MC1R): c.67C> T (p.Gln23Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs201533137 GRCh38 Chromosome 16, 89919325: 89919325
7 MC1R NM_002386.3(MC1R): c.86dupA (p.Asn29Lysfs) duplication Uncertain significance rs796296176 GRCh38 Chromosome 16, 89919344: 89919344
8 MC1R NM_002386.3(MC1R): c.86dupA (p.Asn29Lysfs) duplication Uncertain significance rs796296176 GRCh37 Chromosome 16, 89985752: 89985752
9 MC1R NM_002386.3(MC1R): c.364G> A (p.Val122Met) single nucleotide variant Benign/Likely benign rs201192930 GRCh38 Chromosome 16, 89919622: 89919622
10 MC1R NM_002386.3(MC1R): c.364G> A (p.Val122Met) single nucleotide variant Benign/Likely benign rs201192930 GRCh37 Chromosome 16, 89986030: 89986030
11 MC1R NM_002386.3(MC1R): c.425G> A (p.Arg142His) single nucleotide variant Benign/Likely benign rs11547464 GRCh38 Chromosome 16, 89919683: 89919683
12 MC1R NM_002386.3(MC1R): c.425G> A (p.Arg142His) single nucleotide variant Benign/Likely benign rs11547464 GRCh37 Chromosome 16, 89986091: 89986091
13 MC1R NM_002386.3(MC1R): c.464T> C (p.Ile155Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1110400 GRCh37 Chromosome 16, 89986130: 89986130
14 MC1R NM_002386.3(MC1R): c.464T> C (p.Ile155Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1110400 GRCh38 Chromosome 16, 89919722: 89919722
15 MC1R NM_002386.3(MC1R): c.479G> A (p.Arg160Gln) single nucleotide variant Uncertain significance rs780813746 GRCh37 Chromosome 16, 89986145: 89986145
16 MC1R NM_002386.3(MC1R): c.479G> A (p.Arg160Gln) single nucleotide variant Uncertain significance rs780813746 GRCh38 Chromosome 16, 89919737: 89919737
17 MC1R NM_002386.3(MC1R): c.531G> A (p.Thr177=) single nucleotide variant Benign rs145781072 GRCh37 Chromosome 16, 89986197: 89986197
18 MC1R NM_002386.3(MC1R): c.531G> A (p.Thr177=) single nucleotide variant Benign rs145781072 GRCh38 Chromosome 16, 89919789: 89919789
19 MC1R NM_002386.3(MC1R): c.583T> G (p.Phe195Val) single nucleotide variant Uncertain significance rs377580634 GRCh38 Chromosome 16, 89919841: 89919841
20 MC1R NM_002386.3(MC1R): c.583T> G (p.Phe195Val) single nucleotide variant Uncertain significance rs377580634 GRCh37 Chromosome 16, 89986249: 89986249
21 MC1R NM_002386.3(MC1R): c.645C> A (p.Cys215Ter) single nucleotide variant Uncertain significance rs878854501 GRCh38 Chromosome 16, 89919903: 89919903
22 MC1R NM_002386.3(MC1R): c.645C> A (p.Cys215Ter) single nucleotide variant Uncertain significance rs878854501 GRCh37 Chromosome 16, 89986311: 89986311
23 MC1R NM_002386.3(MC1R): c.686G> A (p.Arg229His) single nucleotide variant Uncertain significance rs376780075 GRCh38 Chromosome 16, 89919944: 89919944
24 MC1R NM_002386.3(MC1R): c.686G> A (p.Arg229His) single nucleotide variant Uncertain significance rs376780075 GRCh37 Chromosome 16, 89986352: 89986352
25 MC1R NM_002386.3(MC1R): c.699G> A (p.Gln233=) single nucleotide variant Benign/Likely benign rs146544450 GRCh38 Chromosome 16, 89919957: 89919957
26 MC1R NM_002386.3(MC1R): c.699G> A (p.Gln233=) single nucleotide variant Benign/Likely benign rs146544450 GRCh37 Chromosome 16, 89986365: 89986365
27 MC1R NM_002386.3(MC1R): c.466G> C (p.Val156Leu) single nucleotide variant Benign/Likely benign rs3212365 GRCh38 Chromosome 16, 89919724: 89919724
28 MC1R NM_002386.3(MC1R): c.466G> C (p.Val156Leu) single nucleotide variant Benign/Likely benign rs3212365 GRCh37 Chromosome 16, 89986132: 89986132
29 MC1R NM_002386.3(MC1R): c.900C> T (p.Phe300=) single nucleotide variant Benign/Likely benign rs3212367 GRCh38 Chromosome 16, 89920158: 89920158
30 MC1R NM_002386.3(MC1R): c.900C> T (p.Phe300=) single nucleotide variant Benign/Likely benign rs3212367 GRCh37 Chromosome 16, 89986566: 89986566
31 MC1R NM_002386.3(MC1R): c.456C> A (p.Tyr152Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs201326893 GRCh37 Chromosome 16, 89986122: 89986122
32 MC1R NM_002386.3(MC1R): c.456C> A (p.Tyr152Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs201326893 GRCh38 Chromosome 16, 89919714: 89919714
33 MC1R NM_002386.3(MC1R): c.200G> A (p.Arg67Gln) single nucleotide variant Benign/Likely benign rs34090186 GRCh38 Chromosome 16, 89919458: 89919458
34 MC1R NM_002386.3(MC1R): c.200G> A (p.Arg67Gln) single nucleotide variant Benign/Likely benign rs34090186 GRCh37 Chromosome 16, 89985866: 89985866
35 MC1R NM_002386.3(MC1R): c.318G> A (p.Leu106=) single nucleotide variant Benign/Likely benign rs3212364 GRCh37 Chromosome 16, 89985984: 89985984
36 MC1R NM_002386.3(MC1R): c.318G> A (p.Leu106=) single nucleotide variant Benign/Likely benign rs3212364 GRCh38 Chromosome 16, 89919576: 89919576
37 MC1R NM_002386.3(MC1R): c.453C> G (p.Arg151=) single nucleotide variant Benign/Likely benign rs201827012 GRCh38 Chromosome 16, 89919711: 89919711
38 MC1R NM_002386.3(MC1R): c.453C> G (p.Arg151=) single nucleotide variant Benign/Likely benign rs201827012 GRCh37 Chromosome 16, 89986119: 89986119
39 MC1R NM_002386.3(MC1R): c.496dupG (p.Ala166Glyfs) duplication Uncertain significance rs886052506 GRCh37 Chromosome 16, 89986162: 89986162
40 MC1R NM_002386.3(MC1R): c.496dupG (p.Ala166Glyfs) duplication Uncertain significance rs886052506 GRCh38 Chromosome 16, 89919754: 89919754
41 MC1R NM_002386.3(MC1R): c.792C> T (p.Ile264=) single nucleotide variant Benign/Likely benign rs181269865 GRCh37 Chromosome 16, 89986458: 89986458
42 MC1R NM_002386.3(MC1R): c.792C> T (p.Ile264=) single nucleotide variant Benign/Likely benign rs181269865 GRCh38 Chromosome 16, 89920050: 89920050
43 MC1R NM_002386.3(MC1R): c.247T> C (p.Ser83Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs34474212 GRCh38 Chromosome 16, 89919505: 89919505
44 MC1R NM_002386.3(MC1R): c.247T> C (p.Ser83Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs34474212 GRCh37 Chromosome 16, 89985913: 89985913
45 MC1R NM_002386.3(MC1R): c.399C> T (p.Cys133=) single nucleotide variant Benign/Likely benign rs201429598 GRCh38 Chromosome 16, 89919657: 89919657
46 MC1R NM_002386.3(MC1R): c.399C> T (p.Cys133=) single nucleotide variant Benign/Likely benign rs201429598 GRCh37 Chromosome 16, 89986065: 89986065
47 MC1R NM_002386.3(MC1R): c.515G> T (p.Ser172Ile) single nucleotide variant Benign/Likely benign rs376670171 GRCh37 Chromosome 16, 89986181: 89986181
48 MC1R NM_002386.3(MC1R): c.515G> T (p.Ser172Ile) single nucleotide variant Benign/Likely benign rs376670171 GRCh38 Chromosome 16, 89919773: 89919773
49 MC1R NM_002386.3(MC1R): c.586T> C (p.Phe196Leu) single nucleotide variant Benign/Likely benign rs3212366 GRCh37 Chromosome 16, 89986252: 89986252
50 MC1R NM_002386.3(MC1R): c.586T> C (p.Phe196Leu) single nucleotide variant Benign/Likely benign rs3212366 GRCh38 Chromosome 16, 89919844: 89919844

Cosmic variations for Melanoma, Cutaneous Malignant 5:

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 5

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Pathways for Melanoma, Cutaneous Malignant 5

GO Terms for Melanoma, Cutaneous Malignant 5

Sources for Melanoma, Cutaneous Malignant 5

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