CMM10
MCID: MLN055
MIFTS: 18

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 58 76
Melanoma, Cutaneous Malignant, Susceptibility to, 10 58 30 6
Cmm10 58 76
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 10 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
incomplete penetrance


HPO:

33
melanoma, cutaneous malignant 10:
Onset and clinical course adult onset incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 615848
MeSH 45 D008545
SNOMED-CT via HPO 70 2092003 263681008 372244006

Summaries for Melanoma, Cutaneous Malignant 10

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 615848

Related Diseases for Melanoma, Cutaneous Malignant 10

Symptoms & Phenotypes for Melanoma, Cutaneous Malignant 10

Human phenotypes related to Melanoma, Cutaneous Malignant 10:

33
# Description HPO Frequency HPO Source Accession
1 melanoma 33 HP:0002861

Symptoms via clinical synopsis from OMIM:

58
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 30 POT1

Anatomical Context for Melanoma, Cutaneous Malignant 10

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

42
Skin

Publications for Melanoma, Cutaneous Malignant 10

Articles related to Melanoma, Cutaneous Malignant 10:

# Title Authors Year
1
POT1 loss-of-function variants predispose to familial melanoma. ( 24686849 )
2014
2
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. ( 24686846 )
2014

Variations for Melanoma, Cutaneous Malignant 10

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

76
# 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

ClinVar genetic disease variations for Melanoma, Cutaneous Malignant 10:

6 (show top 50) (show all 461)
# Gene Variation Type Significance SNP ID Assembly Location
1 POT1 NM_015450.2(POT1): c.266A> G (p.Tyr89Cys) single nucleotide variant Uncertain significance rs587777472 GRCh37 Chromosome 7, 124503684: 124503684
2 POT1 NM_015450.2(POT1): c.266A> G (p.Tyr89Cys) single nucleotide variant Uncertain significance rs587777472 GRCh38 Chromosome 7, 124863630: 124863630
3 POT1 NM_015450.2(POT1): c.1687-1G> A single nucleotide variant risk factor rs587777473 GRCh37 Chromosome 7, 124465412: 124465412
4 POT1 NM_015450.2(POT1): c.1687-1G> A single nucleotide variant risk factor rs587777473 GRCh38 Chromosome 7, 124825358: 124825358
5 POT1 NM_015450.2(POT1): c.280C> G (p.Gln94Glu) single nucleotide variant risk factor rs587777474 GRCh37 Chromosome 7, 124503670: 124503670
6 POT1 NM_015450.2(POT1): c.280C> G (p.Gln94Glu) single nucleotide variant risk factor rs587777474 GRCh38 Chromosome 7, 124863616: 124863616
7 POT1 NM_015450.2(POT1): c.410G> A (p.Arg137His) single nucleotide variant risk factor rs587777475 GRCh37 Chromosome 7, 124503540: 124503540
8 POT1 NM_015450.2(POT1): c.410G> A (p.Arg137His) single nucleotide variant risk factor rs587777475 GRCh38 Chromosome 7, 124863486: 124863486
9 POT1 NM_015450.2(POT1): c.818G> T (p.Arg273Leu) single nucleotide variant risk factor rs587777476 GRCh37 Chromosome 7, 124493077: 124493077
10 POT1 NM_015450.2(POT1): c.818G> T (p.Arg273Leu) single nucleotide variant risk factor rs587777476 GRCh38 Chromosome 7, 124853023: 124853023
11 POT1 NM_015450.2(POT1): c.809G> A (p.Ser270Asn) single nucleotide variant risk factor rs587777477 GRCh37 Chromosome 7, 124493086: 124493086
12 POT1 NM_015450.2(POT1): c.809G> A (p.Ser270Asn) single nucleotide variant risk factor rs587777477 GRCh38 Chromosome 7, 124853032: 124853032
13 POT1 NM_015450.2(POT1): c.1869G> C (p.Gln623His) single nucleotide variant risk factor rs587777478 GRCh37 Chromosome 7, 124464052: 124464052
14 POT1 NM_015450.2(POT1): c.1869G> C (p.Gln623His) single nucleotide variant risk factor rs587777478 GRCh38 Chromosome 7, 124823998: 124823998
15 POT1 NM_015450.2(POT1): c.670G> A (p.Asp224Asn) single nucleotide variant Uncertain significance rs202187871 GRCh37 Chromosome 7, 124499043: 124499043
16 POT1 NM_015450.2(POT1): c.670G> A (p.Asp224Asn) single nucleotide variant Uncertain significance rs202187871 GRCh38 Chromosome 7, 124858989: 124858989
17 POT1 NM_015450.2(POT1): c.283G> T (p.Gly95Cys) single nucleotide variant Uncertain significance rs797045168 GRCh37 Chromosome 7, 124503667: 124503667
18 POT1 NM_015450.2(POT1): c.283G> T (p.Gly95Cys) single nucleotide variant Uncertain significance rs797045168 GRCh38 Chromosome 7, 124863613: 124863613
19 POT1 NM_015450.2(POT1): c.1851_1852delTA (p.Asp617Glufs) deletion Uncertain significance rs758673417 GRCh37 Chromosome 7, 124464069: 124464070
20 POT1 NM_015450.2(POT1): c.1851_1852delTA (p.Asp617Glufs) deletion Uncertain significance rs758673417 GRCh38 Chromosome 7, 124824015: 124824016
21 POT1 NM_015450.2(POT1): c.147delT (p.Ile49Metfs) deletion Conflicting interpretations of pathogenicity rs1064794328 GRCh38 Chromosome 7, 124871019: 124871019
22 POT1 NM_015450.2(POT1): c.147delT (p.Ile49Metfs) deletion Conflicting interpretations of pathogenicity rs1064794328 GRCh37 Chromosome 7, 124511073: 124511073
23 POT1 NM_015450.2(POT1): c.1228G> C (p.Asp410His) single nucleotide variant Benign/Likely benign rs79314063 GRCh38 Chromosome 7, 124841114: 124841114
24 POT1 NM_015450.2(POT1): c.1228G> C (p.Asp410His) single nucleotide variant Benign/Likely benign rs79314063 GRCh37 Chromosome 7, 124481168: 124481168
25 POT1 NM_015450.2(POT1): c.314C> T (p.Thr105Met) single nucleotide variant Uncertain significance rs1554426994 GRCh38 Chromosome 7, 124863582: 124863582
26 POT1 NM_015450.2(POT1): c.314C> T (p.Thr105Met) single nucleotide variant Uncertain significance rs1554426994 GRCh37 Chromosome 7, 124503636: 124503636
27 POT1 NM_015450.2(POT1): c.64A> G (p.Ile22Val) single nucleotide variant Conflicting interpretations of pathogenicity rs375440229 GRCh38 Chromosome 7, 124892326: 124892326
28 POT1 NM_015450.2(POT1): c.64A> G (p.Ile22Val) single nucleotide variant Conflicting interpretations of pathogenicity rs375440229 GRCh37 Chromosome 7, 124532380: 124532380
29 POT1 NM_015450.2(POT1): c.1810G> A (p.Glu604Lys) single nucleotide variant Uncertain significance rs753762757 GRCh37 Chromosome 7, 124464111: 124464111
30 POT1 NM_015450.2(POT1): c.1810G> A (p.Glu604Lys) single nucleotide variant Uncertain significance rs753762757 GRCh38 Chromosome 7, 124824057: 124824057
31 POT1 NM_015450.2(POT1): c.1746T> C (p.Ser582=) single nucleotide variant Likely benign rs1222395233 GRCh38 Chromosome 7, 124825298: 124825298
32 POT1 NM_015450.2(POT1): c.1746T> C (p.Ser582=) single nucleotide variant Likely benign rs1222395233 GRCh37 Chromosome 7, 124465352: 124465352
33 POT1 NM_015450.2(POT1): c.1687-9A> G single nucleotide variant Likely benign rs776461827 GRCh37 Chromosome 7, 124465420: 124465420
34 POT1 NM_015450.2(POT1): c.1687-9A> G single nucleotide variant Likely benign rs776461827 GRCh38 Chromosome 7, 124825366: 124825366
35 POT1 NM_015450.2(POT1): c.1614C> T (p.Leu538=) single nucleotide variant Likely benign rs969018798 GRCh37 Chromosome 7, 124467340: 124467340
36 POT1 NM_015450.2(POT1): c.1614C> T (p.Leu538=) single nucleotide variant Likely benign rs969018798 GRCh38 Chromosome 7, 124827286: 124827286
37 POT1 NM_015450.2(POT1): c.1555G> A (p.Val519Ile) single nucleotide variant Uncertain significance rs776873207 GRCh37 Chromosome 7, 124469347: 124469347
38 POT1 NM_015450.2(POT1): c.1555G> A (p.Val519Ile) single nucleotide variant Uncertain significance rs776873207 GRCh38 Chromosome 7, 124829293: 124829293
39 POT1 NM_015450.2(POT1): c.1534A> G (p.Ile512Val) single nucleotide variant Uncertain significance rs1179111946 GRCh37 Chromosome 7, 124469368: 124469368
40 POT1 NM_015450.2(POT1): c.1534A> G (p.Ile512Val) single nucleotide variant Uncertain significance rs1179111946 GRCh38 Chromosome 7, 124829314: 124829314
41 POT1 NM_015450.2(POT1): c.1481T> A (p.Ile494Lys) single nucleotide variant Uncertain significance rs774858551 GRCh37 Chromosome 7, 124475357: 124475357
42 POT1 NM_015450.2(POT1): c.1481T> A (p.Ile494Lys) single nucleotide variant Uncertain significance rs774858551 GRCh38 Chromosome 7, 124835303: 124835303
43 POT1 NM_015450.2(POT1): c.1416T> G (p.Ser472Arg) single nucleotide variant Uncertain significance rs146643991 GRCh37 Chromosome 7, 124475422: 124475422
44 POT1 NM_015450.2(POT1): c.1416T> G (p.Ser472Arg) single nucleotide variant Uncertain significance rs146643991 GRCh38 Chromosome 7, 124835368: 124835368
45 POT1 NM_015450.2(POT1): c.1360T> C (p.Leu454=) single nucleotide variant Likely benign rs1554420018 GRCh37 Chromosome 7, 124481036: 124481036
46 POT1 NM_015450.2(POT1): c.1360T> C (p.Leu454=) single nucleotide variant Likely benign rs1554420018 GRCh38 Chromosome 7, 124840982: 124840982
47 POT1 NM_015450.2(POT1): c.1185C> T (p.Gly395=) single nucleotide variant Uncertain significance rs538385307 GRCh37 Chromosome 7, 124481211: 124481211
48 POT1 NM_015450.2(POT1): c.1185C> T (p.Gly395=) single nucleotide variant Uncertain significance rs538385307 GRCh38 Chromosome 7, 124841157: 124841157
49 POT1 NM_015450.2(POT1): c.1156C> A (p.His386Asn) single nucleotide variant Uncertain significance rs1168740597 GRCh37 Chromosome 7, 124482868: 124482868
50 POT1 NM_015450.2(POT1): c.1156C> A (p.His386Asn) single nucleotide variant Uncertain significance rs1168740597 GRCh38 Chromosome 7, 124842814: 124842814

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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