List of variants in gene PTEN reported as pathogenic for carcinoma

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: 20

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	rs121909224	0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)	rs121913293	0.00001
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	rs121909231
NM_000314.8(PTEN):c.1012del (p.Ser338fs)	rs1564568660
NM_000314.8(PTEN):c.204C>A (p.Tyr68Ter)	rs773176120
NM_000314.8(PTEN):c.209+1G>A	rs1554897280
NM_000314.8(PTEN):c.209+4_209+7del	rs398123318
NM_000314.8(PTEN):c.253+1G>A	rs587776667
NM_000314.8(PTEN):c.253+2T>A	rs1224040268
NM_000314.8(PTEN):c.362C>G (p.Ala121Gly)	rs121909237
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly)	rs121909224
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys)	rs370795352
NM_000314.8(PTEN):c.564T>A (p.Tyr188Ter)	rs606231170
NM_000314.8(PTEN):c.634+5G>A	rs138336847
NM_000314.8(PTEN):c.672del (p.Tyr225fs)	rs1564566774
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	rs121909219
NM_000314.8(PTEN):c.741dup (p.Pro248fs)	rs587782341
NM_000314.8(PTEN):c.761_765del (p.Lys254fs)	rs606231169
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)	rs863224909
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer)	rs146650273

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.