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CMM10
MCID: MLN055
MIFTS: 22

Melanoma, Cutaneous Malignant 10 (CMM10)

Categories: Cancer diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin diseases
Genes Variations Publications Symptoms & Phenotypes
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Aliases & Classifications for Melanoma, Cutaneous Malignant 10

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MalaCards integrated aliases for Melanoma, Cutaneous Malignant 10:

Name: Melanoma, Cutaneous Malignant 10 57 73
Melanoma, Cutaneous Malignant, Susceptibility to, 10 57 29 6
Cmm10 57 73
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 10 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
adult onset
incomplete penetrance

Inheritance:
autosomal dominant


HPO:

31
melanoma, cutaneous malignant 10:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset incomplete penetrance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Skin diseases Nephrological diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 615848
OMIM Phenotypic Series 57 PS155600
MeSH 44 D008545
SNOMED-CT via HPO 68 2092003 263681008 372244006
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Summaries for Melanoma, Cutaneous Malignant 10

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UniProtKB/Swiss-Prot : 73 Melanoma, cutaneous malignant 10: 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.

MalaCards based summary : Melanoma, Cutaneous Malignant 10, is also known as melanoma, cutaneous malignant, susceptibility to, 10. An important gene associated with Melanoma, Cutaneous Malignant 10 is POT1 (Protection Of Telomeres 1). Related phenotype is melanoma.

More information from OMIM: 615848 PS155600
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Related Diseases for Melanoma, Cutaneous Malignant 10

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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

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Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 10

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Human phenotypes related to Melanoma, Cutaneous Malignant 10:

31
# Description HPO Frequency HPO Source Accession
1 melanoma 31 HP:0002861

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neoplasia:
cutaneous malignant melanoma
possibly increased risk for other cancers

Clinical features from OMIM®:

615848 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Melanoma, Cutaneous Malignant 10

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Search Clinical Trials , NIH Clinical Center for Melanoma, Cutaneous Malignant 10

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Genetic Tests for Melanoma, Cutaneous Malignant 10

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Genetic tests related to Melanoma, Cutaneous Malignant 10:

# Genetic test Affiliating Genes
1 Melanoma, Cutaneous Malignant, Susceptibility to, 10 29 POT1
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Anatomical Context for Melanoma, Cutaneous Malignant 10

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Publications for Melanoma, Cutaneous Malignant 10

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Articles related to Melanoma, Cutaneous Malignant 10:

# Title Authors PMID Year
1
POT1 loss-of-function variants predispose to familial melanoma. 57 6
24686849 2014
2
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. 6 57
24686846 2014
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Variations for Melanoma, Cutaneous Malignant 10

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ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 10:

6 (show top 50) (show all 486)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POT1 NM_015450.3(POT1):c.809G>A (p.Ser270Asn) SNV Pathogenic, risk factor 139525 rs587777477 7:124493086-124493086 7:124853032-124853032
2 POT1 NM_015450.3(POT1):c.1227A>G (p.Pro409=) SNV Pathogenic 995804 7:124481169-124481169 7:124841115-124841115
3 POT1 NM_015450.3(POT1):c.818G>T (p.Arg273Leu) SNV risk factor 139524 rs587777476 7:124493077-124493077 7:124853023-124853023
4 POT1 NM_015450.3(POT1):c.1869G>C (p.Gln623His) SNV risk factor 139526 rs587777478 7:124464052-124464052 7:124823998-124823998
5 POT1 NM_015450.3(POT1):c.1687-1G>A SNV risk factor 139521 rs587777473 7:124465412-124465412 7:124825358-124825358
6 POT1 NM_015450.3(POT1):c.268A>G (p.Lys90Glu) SNV Uncertain significance 475077 rs1554427012 7:124503682-124503682 7:124863628-124863628
7 POT1 NM_015450.3(POT1):c.1685C>T (p.Ser562Phe) SNV Uncertain significance 475055 rs1554415832 7:124467269-124467269 7:124827215-124827215
8 POT1 NM_015450.3(POT1):c.239G>A (p.Arg80His) SNV Uncertain significance 475074 rs868664738 7:124510981-124510981 7:124870927-124870927
9 POT1 NM_015450.3(POT1):c.916A>T (p.Ile306Phe) SNV Uncertain significance 475113 rs1415345156 7:124491959-124491959 7:124851905-124851905
10 POT1 NM_015450.3(POT1):c.126T>G (p.Asp42Glu) SNV Uncertain significance 475035 rs1554429221 7:124511094-124511094 7:124871040-124871040
11 POT1 NM_015450.3(POT1):c.1087C>T (p.Arg363Ter) SNV Uncertain significance 475019 rs756198077 7:124482937-124482937 7:124842883-124842883
12 POT1 NM_015450.3(POT1):c.1416T>G (p.Ser472Arg) SNV Uncertain significance 475044 rs146643991 7:124475422-124475422 7:124835368-124835368
13 POT1 NM_015450.3(POT1):c.1147C>A (p.Pro383Thr) SNV Uncertain significance 475022 rs1243926615 7:124482877-124482877 7:124842823-124842823
14 POT1 NM_015450.3(POT1):c.1834G>A (p.Val612Ile) SNV Uncertain significance 475064 rs1554414690 7:124464087-124464087 7:124824033-124824033
15 POT1 NM_015450.3(POT1):c.716T>G (p.Leu239Arg) SNV Uncertain significance 475096 rs1554424050 7:124493179-124493179 7:124853125-124853125
16 POT1 NM_015450.3(POT1):c.286A>G (p.Ile96Val) SNV Uncertain significance 475079 rs778571153 7:124503664-124503664 7:124863610-124863610
17 POT1 NM_015450.3(POT1):c.77A>G (p.Tyr26Cys) SNV Uncertain significance 475102 rs1197625483 7:124532367-124532367 7:124892313-124892313
18 POT1 NM_015450.3(POT1):c.1164-10A>G SNV Uncertain significance 475025 rs1554420179 7:124481242-124481242 7:124841188-124841188
19 POT1 NM_015450.3(POT1):c.347C>T (p.Pro116Leu) SNV Uncertain significance 475081 rs1554426966 7:124503603-124503603 7:124863549-124863549
20 POT1 NM_015450.3(POT1):c.598_606dup (p.Asp200_Val202dup) Duplication Uncertain significance 475090 rs1554425767 7:124499106-124499107 7:124859052-124859053
21 POT1 NM_015450.3(POT1):c.197A>G (p.Tyr66Cys) SNV Uncertain significance 475069 rs776085350 7:124511023-124511023 7:124870969-124870969
22 POT1 NM_015450.3(POT1):c.986G>A (p.Cys329Tyr) SNV Uncertain significance 475116 rs1472832603 7:124487016-124487016 7:124846962-124846962
23 POT1 NM_015450.3(POT1):c.1214C>T (p.Ala405Val) SNV Uncertain significance 475031 rs904242272 7:124481182-124481182 7:124841128-124841128
24 POT1 NM_015450.3(POT1):c.1851_1852del (p.Asp617fs) Deletion Uncertain significance 209095 rs758673417 7:124464069-124464070 7:124824015-124824016
25 POT1 NM_015450.3(POT1):c.818G>A (p.Arg273Gln) SNV Uncertain significance 475105 rs587777476 7:124493077-124493077 7:124853023-124853023
26 POT1 NM_015450.3(POT1):c.211A>G (p.Ile71Val) SNV Uncertain significance 475071 rs776844142 7:124511009-124511009 7:124870955-124870955
27 POT1 NM_015450.3(POT1):c.675C>A (p.Asn225Lys) SNV Uncertain significance 475093 rs1050055964 7:124499038-124499038 7:124858984-124858984
28 POT1 NM_015450.3(POT1):c.1185C>T (p.Gly395=) SNV Uncertain significance 475028 rs538385307 7:124481211-124481211 7:124841157-124841157
29 POT1 NM_015450.3(POT1):c.1534A>G (p.Ile512Val) SNV Uncertain significance 475047 rs1179111946 7:124469368-124469368 7:124829314-124829314
30 POT1 NM_015450.3(POT1):c.224A>G (p.Asn75Ser) SNV Uncertain significance 475072 rs1044174795 7:124510996-124510996 7:124870942-124870942
31 POT1 NM_015450.3(POT1):c.1287A>C (p.Gln429His) SNV Uncertain significance 475036 rs777842421 7:124481109-124481109 7:124841055-124841055
32 POT1 NM_015450.3(POT1):c.272A>C (p.Lys91Thr) SNV Uncertain significance 475078 rs1283293522 7:124503678-124503678 7:124863624-124863624
33 POT1 NM_015450.3(POT1):c.1686+4A>G SNV Uncertain significance 475056 rs907669138 7:124467264-124467264 7:124827210-124827210
34 POT1 NM_015450.3(POT1):c.9+3A>G SNV Uncertain significance 475111 rs372320290 7:124537216-124537216 7:124897162-124897162
35 POT1 NM_015450.3(POT1):c.71A>G (p.Asn24Ser) SNV Uncertain significance 475097 rs372235657 7:124532373-124532373 7:124892319-124892319
36 POT1 NM_015450.3(POT1):c.64A>G (p.Ile22Val) SNV Uncertain significance 436392 rs375440229 7:124532380-124532380 7:124892326-124892326
37 POT1 NM_015450.3(POT1):c.10-2A>C SNV Uncertain significance 475014 rs1554434788 7:124532436-124532436 7:124892382-124892382
38 POT1 NM_015450.3(POT1):c.1474_1491del (p.Phe492_Thr497del) Deletion Uncertain significance 475045 rs1554418234 7:124475347-124475364 7:124835293-124835310
39 POT1 NM_015450.3(POT1):c.314C>T (p.Thr105Met) SNV Uncertain significance 436391 rs1554426994 7:124503636-124503636 7:124863582-124863582
40 POT1 NM_015450.3(POT1):c.114C>G (p.Ser38Arg) SNV Uncertain significance 475023 rs1554434730 7:124532330-124532330 7:124892276-124892276
41 POT1 NM_015450.3(POT1):c.1370-8_1370-6del Deletion Uncertain significance 475042 rs1158098049 7:124475474-124475476 7:124835420-124835422
42 POT1 NM_015450.3(POT1):c.1870A>G (p.Ile624Val) SNV Uncertain significance 475067 rs1410012081 7:124464051-124464051 7:124823997-124823997
43 POT1 NM_015450.3(POT1):c.512A>G (p.Lys171Arg) SNV Uncertain significance 475085 rs1284442583 7:124503438-124503438 7:124863384-124863384
44 POT1 NM_015450.3(POT1):c.233T>C (p.Ile78Thr) SNV Uncertain significance 475073 rs947005337 7:124510987-124510987 7:124870933-124870933
45 POT1 NM_015450.3(POT1):c.1363A>G (p.Ile455Val) SNV Uncertain significance 475039 rs776965979 7:124481033-124481033 7:124840979-124840979
46 POT1 NM_015450.3(POT1):c.1555G>A (p.Val519Ile) SNV Uncertain significance 475048 rs776873207 7:124469347-124469347 7:124829293-124829293
47 POT1 NM_015450.3(POT1):c.1164-1G>A SNV Uncertain significance 475026 rs866612394 7:124481233-124481233 7:124841179-124841179
48 POT1 NM_015450.3(POT1):c.1568C>G (p.Ser523Trp) SNV Uncertain significance 475051 rs139388603 7:124469334-124469334 7:124829280-124829280
49 POT1 NM_015450.3(POT1):c.577T>C (p.Ser193Pro) SNV Uncertain significance 475088 rs752854457 7:124499136-124499136 7:124859082-124859082
50 POT1 NM_015450.3(POT1):c.205C>T (p.Leu69Phe) SNV Uncertain significance 475070 rs905571705 7:124511015-124511015 7:124870961-124870961

UniProtKB/Swiss-Prot genetic disease variations for Melanoma, Cutaneous Malignant 10:

73
# Symbol AA change Variation ID SNP ID
1 POT1 p.Tyr89Cys VAR_071390 rs587777472
2 POT1 p.Gln94Glu VAR_071391 rs587777474
3 POT1 p.Arg137His VAR_071392 rs587777475
4 POT1 p.Asp224Asn VAR_071393 rs202187871
5 POT1 p.Ser270Asn VAR_071394 rs587777477
6 POT1 p.Arg273Leu VAR_071395 rs587777476
7 POT1 p.Ala532Pro VAR_071396 rs537377921
8 POT1 p.Gln623His VAR_071397 rs587777478

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Expression for Melanoma, Cutaneous Malignant 10

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Search GEO for disease gene expression data for Melanoma, Cutaneous Malignant 10.
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Pathways for Melanoma, Cutaneous Malignant 10

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GO Terms for Melanoma, Cutaneous Malignant 10

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Sources for Melanoma, Cutaneous Malignant 10

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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