CMM10
MCID: MLN055
MIFTS: 24

Melanoma, Cutaneous Malignant 10 (CMM10)

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

Aliases & Classifications for Melanoma, Cutaneous Malignant 10

MalaCards integrated aliases for Melanoma, Cutaneous Malignant 10:

Name: Melanoma, Cutaneous Malignant 10 56 73
Melanoma, Cutaneous Malignant, Susceptibility to, 10 56 29 6
Cmm10 56 73
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 10 39

Characteristics:

OMIM:

56
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:



External Ids:

OMIM 56 615848
OMIM Phenotypic Series 56 PS155600
MeSH 43 D008545
SNOMED-CT via HPO 68 2092003 263681008 372244006

Summaries for Melanoma, Cutaneous Malignant 10

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). Affiliated tissues include skin, and related phenotype is melanoma.

More information from OMIM: 615848 PS155600

Related Diseases for Melanoma, Cutaneous Malignant 10

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 10

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:

56
Neoplasia:
cutaneous malignant melanoma
possibly increased risk for other cancers

Clinical features from OMIM:

615848

Drugs & Therapeutics for Melanoma, Cutaneous Malignant 10

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

Genetic Tests for Melanoma, Cutaneous Malignant 10

Genetic tests related to Melanoma, Cutaneous Malignant 10:

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

Anatomical Context for Melanoma, Cutaneous Malignant 10

MalaCards organs/tissues related to Melanoma, Cutaneous Malignant 10:

40
Skin

Publications for Melanoma, Cutaneous Malignant 10

Articles related to Melanoma, Cutaneous Malignant 10:

# Title Authors PMID Year
1
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. 56 6
24686846 2014
2
POT1 loss-of-function variants predispose to familial melanoma. 56 6
24686849 2014
3
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 6
24493721 2014
4
New common variants affecting susceptibility to basal cell carcinoma. 6
19578363 2009
5
SLC45A2: a novel malignant melanoma-associated gene. 6
18563784 2008
6
Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population. 6
18683857 2008
7
A genomewide association study of skin pigmentation in a South Asian population. 6
17999355 2007
8
Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis. 6
17044855 2006

Variations for Melanoma, Cutaneous Malignant 10

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 10:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POT1 NM_015450.3(POT1):c.1687-1G>ASNV risk factor 139521 rs587777473 7:124465412-124465412 7:124825358-124825358
2 POT1 NM_015450.3(POT1):c.280C>G (p.Gln94Glu)SNV risk factor 139522 rs587777474 7:124503670-124503670 7:124863616-124863616
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.809G>A (p.Ser270Asn)SNV risk factor 139525 rs587777477 7:124493086-124493086 7:124853032-124853032
5 POT1 NM_015450.3(POT1):c.1869G>C (p.Gln623His)SNV risk factor 139526 rs587777478 7:124464052-124464052 7:124823998-124823998
6 POT1 NM_015450.3(POT1):c.1841A>G (p.Asn614Ser)SNV Conflicting interpretations of pathogenicity 475066 rs202024401 7:124464080-124464080 7:124824026-124824026
7 POT1 NM_015450.3(POT1):c.64A>G (p.Ile22Val)SNV Conflicting interpretations of pathogenicity 436392 rs375440229 7:124532380-124532380 7:124892326-124892326
8 POT1 NM_015450.3(POT1):c.147del (p.Ile49fs)deletion Conflicting interpretations of pathogenicity 420174 rs1064794328 7:124511073-124511073 7:124871019-124871019
9 POT1 NM_015450.3(POT1):c.1071dup (p.Gln358fs)duplication Conflicting interpretations of pathogenicity 541864 rs750470470 7:124482952-124482953 7:124842898-124842899
10 POT1 NM_015450.3(POT1):c.747A>G (p.Gln249=)SNV Conflicting interpretations of pathogenicity 541860 rs35361862 7:124493148-124493148 7:124853094-124853094
11 POT1 NM_015450.3(POT1):c.913G>A (p.Val305Ile)SNV Uncertain significance 541878 rs1444104997 7:124491962-124491962 7:124851908-124851908
12 POT1 NM_015450.3(POT1):c.798T>A (p.His266Gln)SNV Uncertain significance 541875 rs1554424006 7:124493097-124493097 7:124853043-124853043
13 POT1 NM_015450.3(POT1):c.763A>C (p.Asn255His)SNV Uncertain significance 541879 rs1260902476 7:124493132-124493132 7:124853078-124853078
14 POT1 NM_015450.3(POT1):c.1518T>A (p.Cys506Ter)SNV Uncertain significance 541868 rs1554416461 7:124469384-124469384 7:124829330-124829330
15 POT1 NM_015450.3(POT1):c.1381A>T (p.Ser461Cys)SNV Uncertain significance 541856 rs762019631 7:124475457-124475457 7:124835403-124835403
16 POT1 NM_015450.3(POT1):c.1294C>T (p.Arg432Ter)SNV Uncertain significance 541876 rs758341603 7:124481102-124481102 7:124841048-124841048
17 POT1 NM_015450.3(POT1):c.114C>G (p.Ser38Arg)SNV Uncertain significance 475023 rs1554434730 7:124532330-124532330 7:124892276-124892276
18 POT1 NM_015450.3(POT1):c.9+3A>GSNV Uncertain significance 475111 rs372320290 7:124537216-124537216 7:124897162-124897162
19 POT1 NM_015450.3(POT1):c.1606G>A (p.Val536Ile)SNV Uncertain significance 486147 rs1174783791 7:124467348-124467348 7:124827294-124827294
20 POT1 NM_015450.3(POT1):c.1742A>G (p.Lys581Arg)SNV Uncertain significance 486134 rs201023336 7:124465356-124465356 7:124825302-124825302
21 POT1 NM_015450.3(POT1):c.703G>A (p.Val235Ile)SNV Uncertain significance 486137 rs753638532 7:124493192-124493192 7:124853138-124853138
22 POT1 NM_015450.3(POT1):c.1630A>G (p.Met544Val)SNV Uncertain significance 486136 rs762424988 7:124467324-124467324 7:124827270-124827270
23 POT1 NM_015450.3(POT1):c.1441G>A (p.Glu481Lys)SNV Uncertain significance 486141 rs200494750 7:124475397-124475397 7:124835343-124835343
24 POT1 NM_015450.3(POT1):c.475A>G (p.Met159Val)SNV Uncertain significance 486143 rs1449504013 7:124503475-124503475 7:124863421-124863421
25 POT1 NM_015450.3(POT1):c.255G>A (p.Lys85=)SNV Uncertain significance 486150 rs747851551 7:124510965-124510965 7:124870911-124870911
26 POT1 NM_015450.3(POT1):c.1186G>A (p.Asp396Asn)SNV Uncertain significance 486129 rs148956533 7:124481210-124481210 7:124841156-124841156
27 POT1 NM_015450.3(POT1):c.526G>A (p.Gly176Arg)SNV Uncertain significance 486140 rs774576173 7:124503424-124503424 7:124863370-124863370
28 POT1 NM_015450.3(POT1):c.1819A>G (p.Ile607Val)SNV Uncertain significance 541862 rs1554414706 7:124464102-124464102 7:124824048-124824048
29 POT1 NM_015450.3(POT1):c.1763_1764AT[1] (p.Met589fs)short repeat Uncertain significance 541882 rs771968149 7:124465332-124465333 7:124825278-124825279
30 POT1 NM_015450.3(POT1):c.779G>A (p.Ser260Asn)SNV Uncertain significance 541857 rs1323715274 7:124493116-124493116 7:124853062-124853062
31 POT1 NM_015450.3(POT1):c.425C>T (p.Thr142Ile)SNV Uncertain significance 541867 rs1554426922 7:124503525-124503525 7:124863471-124863471
32 POT1 NM_015450.3(POT1):c.418G>A (p.Ala140Thr)SNV Uncertain significance 541881 rs1554426928 7:124503532-124503532 7:124863478-124863478
33 POT1 NM_015450.3(POT1):c.238C>T (p.Arg80Cys)SNV Uncertain significance 541863 rs778692211 7:124510982-124510982 7:124870928-124870928
34 POT1 NM_015450.3(POT1):c.161dup (p.Asn54fs)duplication Uncertain significance 541873 rs1554429205 7:124511058-124511059 7:124871004-124871005
35 POT1 NM_015450.3(POT1):c.1802C>T (p.Pro601Leu)SNV Uncertain significance 541855 rs779050803 7:124464119-124464119 7:124824065-124824065
36 POT1 NM_015450.3(POT1):c.1687-5T>GSNV Uncertain significance 541861 rs35062732 7:124465416-124465416 7:124825362-124825362
37 POT1 NM_015450.3(POT1):c.1183G>A (p.Gly395Ser)SNV Uncertain significance 541870 rs757373061 7:124481213-124481213 7:124841159-124841159
38 POT1 NM_015450.3(POT1):c.1197A>G (p.Ile399Met)SNV Uncertain significance 541854 rs1554420158 7:124481199-124481199 7:124841145-124841145
39 POT1 NM_015450.3(POT1):c.870-7A>GSNV Uncertain significance 541883 rs372566252 7:124492012-124492012 7:124851958-124851958
40 POT1 NM_015450.3(POT1):c.817C>T (p.Arg273Trp)SNV Uncertain significance 541880 rs1554423983 7:124493078-124493078 7:124853024-124853024
41 POT1 NM_015450.3(POT1):c.343A>C (p.Ile115Leu)SNV Uncertain significance 541858 rs755644182 7:124503607-124503607 7:124863553-124863553
42 POT1 NM_015450.3(POT1):c.653T>C (p.Ile218Thr)SNV Uncertain significance 541871 rs376770473 7:124499060-124499060 7:124859006-124859006
43 POT1 NM_015450.3(POT1):c.623G>A (p.Ser208Asn)SNV Uncertain significance 541869 rs776459318 7:124499090-124499090 7:124859036-124859036
44 POT1 NM_015450.3(POT1):c.547-3C>ASNV Uncertain significance 541866 rs770890978 7:124499169-124499169 7:124859115-124859115
45 POT1 NM_015450.3(POT1):c.131G>A (p.Cys44Tyr)SNV Uncertain significance 541872 rs1260027166 7:124511089-124511089 7:124871035-124871035
46 POT1 NM_015450.3(POT1):c.1871T>C (p.Ile624Thr)SNV Uncertain significance 541859 rs1554414645 7:124464050-124464050 7:124823996-124823996
47 POT1 NM_015450.3(POT1):c.1864T>C (p.Tyr622His)SNV Uncertain significance 541877 rs188854542 7:124464057-124464057 7:124824003-124824003
48 POT1 NM_015450.3(POT1):c.314C>T (p.Thr105Met)SNV Uncertain significance 436391 rs1554426994 7:124503636-124503636 7:124863582-124863582
49 POT1 NM_015450.3(POT1):c.1370-8_1370-6deldeletion Uncertain significance 475042 rs1158098049 7:124475474-124475476 7:124835420-124835422
50 POT1 NM_015450.3(POT1):c.239G>A (p.Arg80His)SNV Uncertain significance 475074 rs868664738 7:124510981-124510981 7:124870927-124870927

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

Expression for Melanoma, Cutaneous Malignant 10

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

Pathways for Melanoma, Cutaneous Malignant 10

GO Terms for Melanoma, Cutaneous Malignant 10

Sources for Melanoma, Cutaneous Malignant 10

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7 CNVD
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10 dbSNP
11 DGIdb
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30 HMDB
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32 ICD10
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56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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