ClinVar Miner

List of variants in gene POT1 reported as benign for familial melanoma

Included ClinVar conditions (20):

Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9
Carcinoma of pancreas; Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Germ cell tumor of testis
Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer
Cardiofaciocutaneous syndrome 1; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer
Endometrial carcinoma; Macrocephaly-autism syndrome; Familial meningioma; Squamous cell carcinoma of the head and neck; Bannayan-Riley-Ruvalcaba syndrome; Malignant tumor of prostate; Thyroid cancer, nonmedullary, 2; VACTERL with hydrocephalus; Glioma susceptibility 2; Cowden syndrome 1; Melanoma, cutaneous malignant, susceptibility to, 1
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Melanoma, cutaneous malignant, susceptibility to, 1
Familial melanoma
Glioma susceptibility 1; Melanoma, cutaneous malignant, susceptibility to, 1
Interstitial lung disease 2; Aplastic anemia; Dyskeratosis congenita, autosomal dominant 1; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9
Melanoma, cutaneous malignant, susceptibility to, 1
Melanoma, cutaneous malignant, susceptibility to, 2
Melanoma, cutaneous malignant, susceptibility to, 3
Melanoma, cutaneous malignant, susceptibility to, 5
Melanoma, cutaneous malignant, susceptibility to, 6
Melanoma, cutaneous malignant, susceptibility to, 9
Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous malignant, susceptibility to, 2; Melanoma and neural system tumor syndrome
Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Familial pancreatic carcinoma; Germ cell tumor of testis
Tumor predisposition syndrome 3
Tumor predisposition syndrome 3; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8; Cerebroretinal microangiopathy with calcifications and cysts 3
Tyrosinase-positive oculocutaneous albinism; Skin/hair/eye pigmentation, variation in, 2; Increased analgesia from kappa-opioid receptor agonist, female-specific; Melanoma, cutaneous malignant, susceptibility to, 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_015450.3(POT1):c.1006+16A>G	rs7794637	0.70871
NM_015450.3(POT1):c.702+9T>G	rs6977407	0.60082
NM_015450.3(POT1):c.702+8A>T	rs6959712	0.60081
NM_015450.3(POT1):c.1164-13C>T	rs3815221	0.39790
NM_015450.3(POT1):c.1884A>C (p.Thr628=)	rs17147565	0.03412
NM_015450.3(POT1):c.1687-5T>A	rs35062732	0.00699
NM_015450.3(POT1):c.903G>T (p.Gln301His)	rs116916706	0.00304
NM_015450.3(POT1):c.924A>G (p.Gln308=)	rs34398311	0.00206
NM_015450.3(POT1):c.751A>G (p.Met251Val)	rs148397357	0.00171
NM_015450.3(POT1):c.828G>A (p.Arg276=)	rs76496261	0.00106
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg)	rs554325914	0.00098
NM_015450.3(POT1):c.-34T>C	rs202009081	0.00044
NM_015450.3(POT1):c.846C>T (p.Asn282=)	rs142704514	0.00035
NM_015450.3(POT1):c.1228G>C (p.Asp410His)	rs79314063	0.00022
NM_015450.3(POT1):c.1227A>C (p.Pro409=)	rs552835784	0.00020
NM_015450.3(POT1):c.1686+32A>G	rs749702835	0.00011
NM_015450.3(POT1):c.1077A>G (p.Gln359=)	rs539321499	0.00003
NM_015450.3(POT1):c.1007-11del	rs1304104982
NM_015450.3(POT1):c.1211G>T (p.Gly404Val)	rs35536751
NM_015450.3(POT1):c.125-12del
NM_015450.3(POT1):c.1506-12del	rs2116422381
NM_015450.3(POT1):c.1595-11del	rs762511146
NM_015450.3(POT1):c.1595-11dup	rs762511146
NM_015450.3(POT1):c.1793-11del
NM_015450.3(POT1):c.1793-11dup
NM_015450.3(POT1):c.1793-17del	rs770069410
NM_015450.3(POT1):c.702+8_702+9delinsTG	rs36069303
NM_015450.3(POT1):c.703-3del	rs1584765789

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