ClinVar Miner

List of variants reported as benign for PTEN hamartoma tumor syndrome by Clingen PTEN Variant Curation Expert Panel, Clingen

Included ClinVar conditions (16):

Autism; Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Macrocephaly
Bannayan-Riley-Ruvalcaba syndrome
Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome
Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome 1
Cowden syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Endometrial carcinoma; Macrocephaly-autism syndrome; Familial meningioma; Squamous cell carcinoma of the head and neck; Bannayan-Riley-Ruvalcaba syndrome; Prostate cancer; Thyroid cancer, nonmedullary, 2; VACTERL with hydrocephalus; Glioma susceptibility 2; Cowden syndrome 1; Melanoma, cutaneous malignant, susceptibility to, 1
Familial cancer of breast; Proteus syndrome; Ovarian cancer; Cowden syndrome 6; Colorectal cancer
Familial cancer of breast; Proteus syndrome; Ovarian neoplasm; Cowden syndrome 6; Colorectal cancer
Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1
Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome
Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome
Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; Proteus-like syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome
Macrocephaly-autism syndrome; Familial meningioma; Prostate cancer; VACTERL with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1
PTEN hamartoma tumor syndrome
Proteus syndrome
Proteus-like syndrome

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.1026+32T>G	rs555895	0.40031
NM_000314.6(PTEN):c.-1059C>G	rs144620057	0.00466
NM_000314.8(PTEN):c.210-39A>G	rs370918174	0.00183
NM_000314.8(PTEN):c.-9C>G	rs11202592	0.00139
NM_000314.8(PTEN):c.79+35C>T	rs190707033	0.00135
NM_000314.6(PTEN):c.-1311T>C	rs70937047	0.00026
NM_000314.6(PTEN):c.-903G>A	rs1044322
NM_000314.8(PTEN):c.210-7_210-3del	rs587780544
NM_000314.8(PTEN):c.254-30dup	rs77494260
NM_000314.8(PTEN):c.802-51_802-14del	rs557364463

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