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 57 74
Melanoma, Cutaneous Malignant, Susceptibility to, 10 57 29 6
Cmm10 57 74
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 10 40

Characteristics:

OMIM:

57
Miscellaneous:
adult onset
incomplete penetrance

Inheritance:
autosomal dominant


HPO:

32
melanoma, cutaneous malignant 10:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset incomplete penetrance


Classifications:



External Ids:

MeSH 44 D008545

Summaries for Melanoma, Cutaneous Malignant 10

UniProtKB/Swiss-Prot : 74 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:

32
# Description HPO Frequency HPO Source Accession
1 melanoma 32 HP:0002861

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8 71
24686846 2014
2
POT1 loss-of-function variants predispose to familial melanoma. 8 71
24686849 2014
3
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 71
24493721 2014
4
New common variants affecting susceptibility to basal cell carcinoma. 71
19578363 2009
5
SLC45A2: a novel malignant melanoma-associated gene. 71
18563784 2008
6
Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population. 71
18683857 2008
7
A genomewide association study of skin pigmentation in a South Asian population. 71
17999355 2007
8
Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis. 71
17044855 2006

Variations for Melanoma, Cutaneous Malignant 10

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 10:

6 (show top 50) (show all 294)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 POT1 NM_015450.3(POT1): c.818G> T (p.Arg273Leu) single nucleotide variant risk factor rs587777476 7:124493077-124493077 7:124853023-124853023
2 POT1 NM_015450.3(POT1): c.809G> A (p.Ser270Asn) single nucleotide variant risk factor rs587777477 7:124493086-124493086 7:124853032-124853032
3 POT1 NM_015450.3(POT1): c.1869G> C (p.Gln623His) single nucleotide variant risk factor rs587777478 7:124464052-124464052 7:124823998-124823998
4 POT1 NM_015450.3(POT1): c.1687-1G> A single nucleotide variant risk factor rs587777473 7:124465412-124465412 7:124825358-124825358
5 POT1 NM_015450.3(POT1): c.280C> G (p.Gln94Glu) single nucleotide variant risk factor rs587777474 7:124503670-124503670 7:124863616-124863616
6 POT1 NM_015450.3(POT1): c.1071dup (p.Gln358fs) duplication Conflicting interpretations of pathogenicity rs750470470 7:124482953-124482953 7:124842899-124842899
7 POT1 NM_015450.3(POT1): c.147del (p.Ile49fs) deletion Conflicting interpretations of pathogenicity rs1064794328 7:124511073-124511073 7:124871019-124871019
8 POT1 NM_015450.3(POT1): c.64A> G (p.Ile22Val) single nucleotide variant Conflicting interpretations of pathogenicity rs375440229 7:124532380-124532380 7:124892326-124892326
9 POT1 NM_015450.3(POT1): c.1841A> G (p.Asn614Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs202024401 7:124464080-124464080 7:124824026-124824026
10 POT1 NM_015450.3(POT1): c.1127A> G (p.Gln376Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143635917 7:124482897-124482897 7:124842843-124842843
11 POT1 NM_015450.3(POT1): c.903G> T (p.Gln301His) single nucleotide variant Conflicting interpretations of pathogenicity rs116916706 7:124491972-124491972 7:124851918-124851918
12 POT1 NM_015450.3(POT1): c.889T> G (p.Leu297Val) single nucleotide variant Uncertain significance rs762044659 7:124491986-124491986 7:124851932-124851932
13 POT1 NM_015450.3(POT1): c.916A> T (p.Ile306Phe) single nucleotide variant Uncertain significance rs1415345156 7:124491959-124491959 7:124851905-124851905
14 POT1 NM_015450.3(POT1): c.709A> C (p.Ser237Arg) single nucleotide variant Uncertain significance rs1554424059 7:124493186-124493186 7:124853132-124853132
15 POT1 NM_015450.3(POT1): c.592A> C (p.Ile198Leu) single nucleotide variant Uncertain significance rs1554425771 7:124499121-124499121 7:124859067-124859067
16 POT1 NM_015450.3(POT1): c.563G> C (p.Arg188Thr) single nucleotide variant Uncertain significance rs1161774277 7:124499150-124499150 7:124859096-124859096
17 POT1 NM_015450.3(POT1): c.272A> C (p.Lys91Thr) single nucleotide variant Uncertain significance rs1283293522 7:124503678-124503678 7:124863624-124863624
18 POT1 NM_015450.3(POT1): c.268A> G (p.Lys90Glu) single nucleotide variant Uncertain significance rs1554427012 7:124503682-124503682 7:124863628-124863628
19 POT1 NM_015450.3(POT1): c.211A> G (p.Ile71Val) single nucleotide variant Uncertain significance rs776844142 7:124511009-124511009 7:124870955-124870955
20 POT1 NM_015450.3(POT1): c.205C> T (p.Leu69Phe) single nucleotide variant Uncertain significance rs905571705 7:124511015-124511015 7:124870961-124870961
21 POT1 NM_015450.3(POT1): c.126T> G (p.Asp42Glu) single nucleotide variant Uncertain significance rs1554429221 7:124511094-124511094 7:124871040-124871040
22 POT1 NM_015450.3(POT1): c.1087C> T (p.Arg363Ter) single nucleotide variant Uncertain significance rs756198077 7:124482937-124482937 7:124842883-124842883
23 POT1 NM_015450.3(POT1): c.347C> T (p.Pro116Leu) single nucleotide variant Uncertain significance rs1554426966 7:124503603-124503603 7:124863549-124863549
24 POT1 NM_015450.3(POT1): c.338C> T (p.Pro113Leu) single nucleotide variant Uncertain significance rs1554426986 7:124503612-124503612 7:124863558-124863558
25 POT1 NM_015450.3(POT1): c.1287A> C (p.Gln429His) single nucleotide variant Uncertain significance rs777842421 7:124481109-124481109 7:124841055-124841055
26 POT1 NM_015450.3(POT1): c.1756A> G (p.Ile586Val) single nucleotide variant Uncertain significance rs1554415137 7:124465342-124465342 7:124825288-124825288
27 POT1 NM_015450.3(POT1): c.1686+4A> G single nucleotide variant Uncertain significance rs907669138 7:124467264-124467264 7:124827210-124827210
28 POT1 NM_015450.2(POT1): c.1370-8_1370-6delCTT deletion Uncertain significance rs1158098049 7:124475474-124475476 7:124835420-124835422
29 POT1 NM_015450.3(POT1): c.1742A> G (p.Lys581Arg) single nucleotide variant Uncertain significance rs201023336 7:124465356-124465356 7:124825302-124825302
30 POT1 NM_015450.3(POT1): c.703G> A (p.Val235Ile) single nucleotide variant Uncertain significance rs753638532 7:124493192-124493192 7:124853138-124853138
31 POT1 NM_015450.3(POT1): c.1630A> G (p.Met544Val) single nucleotide variant Uncertain significance rs762424988 7:124467324-124467324 7:124827270-124827270
32 POT1 NM_015450.3(POT1): c.1441G> A (p.Glu481Lys) single nucleotide variant Uncertain significance rs200494750 7:124475397-124475397 7:124835343-124835343
33 POT1 NM_015450.3(POT1): c.475A> G (p.Met159Val) single nucleotide variant Uncertain significance rs1449504013 7:124503475-124503475 7:124863421-124863421
34 POT1 NM_015450.3(POT1): c.255G> A (p.Lys85=) single nucleotide variant Uncertain significance rs747851551 7:124510965-124510965 7:124870911-124870911
35 POT1 NM_015450.3(POT1): c.1186G> A (p.Asp396Asn) single nucleotide variant Uncertain significance rs148956533 7:124481210-124481210 7:124841156-124841156
36 POT1 NM_015450.3(POT1): c.114C> G (p.Ser38Arg) single nucleotide variant Uncertain significance rs1554434730 7:124532330-124532330 7:124892276-124892276
37 POT1 NM_015450.3(POT1): c.9+3A> G single nucleotide variant Uncertain significance rs372320290 7:124537216-124537216 7:124897162-124897162
38 POT1 NM_015450.3(POT1): c.1606G> A (p.Val536Ile) single nucleotide variant Uncertain significance rs1174783791 7:124467348-124467348 7:124827294-124827294
39 POT1 NM_015450.3(POT1): c.1814G> C (p.Cys605Ser) single nucleotide variant Uncertain significance rs766020213 7:124464107-124464107 7:124824053-124824053
40 POT1 NM_015450.3(POT1): c.526G> A (p.Gly176Arg) single nucleotide variant Uncertain significance rs774576173 7:124503424-124503424 7:124863370-124863370
41 POT1 NM_015450.3(POT1): c.1819A> G (p.Ile607Val) single nucleotide variant Uncertain significance rs1554414706 7:124464102-124464102 7:124824048-124824048
42 POT1 NM_015450.3(POT1): c.1763_1764AT[1] (p.Met589fs) short repeat Uncertain significance rs771968149 7:124465332-124465333 7:124825278-124825279
43 POT1 NM_015450.3(POT1): c.1197A> G (p.Ile399Met) single nucleotide variant Uncertain significance rs1554420158 7:124481199-124481199 7:124841145-124841145
44 POT1 NM_015450.3(POT1): c.779G> A (p.Ser260Asn) single nucleotide variant Uncertain significance rs1323715274 7:124493116-124493116 7:124853062-124853062
45 POT1 NM_015450.3(POT1): c.425C> T (p.Thr142Ile) single nucleotide variant Uncertain significance rs1554426922 7:124503525-124503525 7:124863471-124863471
46 POT1 NM_015450.3(POT1): c.418G> A (p.Ala140Thr) single nucleotide variant Uncertain significance rs1554426928 7:124503532-124503532 7:124863478-124863478
47 POT1 NM_015450.3(POT1): c.238C> T (p.Arg80Cys) single nucleotide variant Uncertain significance rs778692211 7:124510982-124510982 7:124870928-124870928
48 POT1 NM_015450.3(POT1): c.161dup (p.Asn54fs) duplication Uncertain significance rs1554429205 7:124511059-124511059 7:124871005-124871005
49 POT1 NM_015450.3(POT1): c.1802C> T (p.Pro601Leu) single nucleotide variant Uncertain significance rs779050803 7:124464119-124464119 7:124824065-124824065
50 POT1 NM_015450.3(POT1): c.1687-5T> G single nucleotide variant Uncertain significance rs35062732 7:124465416-124465416 7:124825362-124825362

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

74
# 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
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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73 UMLS via Orphanet
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