ClinVar Miner

List of variants in gene PTEN reported as likely pathogenic for prostate disorder

Included ClinVar conditions (29):

Androgen resistance syndrome; Kennedy disease; Partial androgen insensitivity syndrome; Hypospadias 1, X-linked; Malignant tumor of prostate
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; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian neoplasm; Malignant tumor of prostate
Familial cancer of breast; Blepharocheilodontic syndrome 1; Hereditary diffuse gastric adenocarcinoma; Malignant tumor of prostate
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Malignant tumor of prostate
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
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 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; Tracheoesophageal fistula
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Malignant tumor of prostate
Familial cancer of breast; Li-Fraumeni syndrome 2; Bone osteosarcoma; Malignant tumor of prostate
Familial cancer of breast; Li-Fraumeni syndrome 2; Bone osteosarcoma; Malignant tumor of prostate; Colorectal cancer
Familial cancer of breast; Lung carcinoma; Malignant tumor of prostate; Carcinoma of colon
Familial cancer of breast; Malignant tumor of prostate; Colorectal cancer
Familial prostate cancer
Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; Glioma susceptibility 2; Cowden syndrome 1
Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; VACTERL with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1
Malignant tumor of prostate
Malignant tumor of prostate; Metastatic Prostate Small Cell Carcinoma
Malignant tumor of prostate; Prostate neoplasm
Prostate adenocarcinoma
Prostate cancer, hereditary, 1
Prostate cancer, hereditary, 12
Prostate cancer, hereditary, 13
Prostate cancer, hereditary, 2
Prostate cancer, hereditary, 2, susceptibility to
Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17
Prostate cancer, hereditary, 9
Prostate cancer/brain cancer susceptibility
Prostate neoplasm

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)	rs398123317
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro)	rs121909226
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly)	rs121909224
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)	rs121909229
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro)	rs121909229
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)	rs121909229
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)	rs786204865
NM_000314.8(PTEN):c.698G>A (p.Arg233Gln)	rs770025422

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