ClinVar Miner

List of variants in gene POLE reported as uncertain significance for colonic neoplasm

Included ClinVar conditions (19):

Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Malignant tumor of testis; Carcinoma of colon
Adenomatous colonic polyposis
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma
Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Carcinoma of colon; Nonpapillary renal cell carcinoma
Carcinoma of colon
Colon adenocarcinoma
Colon cancer
Colonic neoplasm
Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome; Adenomatous polyp of colon
Colorectal polyposis; Colonic neoplasm
Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma
Familial cancer of breast; Lung carcinoma; Malignant tumor of prostate; Carcinoma of colon
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Lung carcinoma; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Ovarian neoplasm; CLAPO syndrome; CLOVES syndrome; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma
Gastric polyposis; Duodenal polyposis; Adenomatous colonic polyposis; Intestinal polyp; Hyperplastic colonic polyposis
Malignant tumor of ascending colon
Medulloblastoma; Pilomatrixoma; Ovarian neoplasm; Carcinoma of colon; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Exudative vitreoretinopathy 7
Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Carcinoma of colon
Oligodontia-cancer predisposition syndrome; Carcinoma of colon
Sigmoid colon cancer

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)	rs143626223	0.00082
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr)	rs115193764	0.00015
NM_006231.4(POLE):c.6274G>A (p.Gly2092Ser)	rs757559474	0.00012
NM_006231.4(POLE):c.6674G>A (p.Arg2225His)	rs538875477	0.00012
NM_006231.4(POLE):c.6716C>T (p.Ala2239Val)	rs190813054	0.00006
NM_006231.4(POLE):c.155G>A (p.Arg52Gln)	rs372459649	0.00004
NM_006231.4(POLE):c.1852G>A (p.Glu618Lys)	rs1377657524	0.00002
NM_006231.4(POLE):c.3614C>T (p.Pro1205Leu)	rs772686048	0.00002
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp)	rs771980261	0.00002
NM_006231.4(POLE):c.1396A>G (p.Thr466Ala)	rs761765763	0.00001
NM_006231.4(POLE):c.4560C>G (p.Ser1520Arg)	rs2042187560	0.00001
NM_006231.4(POLE):c.2865-5_2865-4del	rs369732588

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