List of variants in gene PTEN reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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: 33

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.-165C>G	rs575260016	0.00267
NM_000314.8(PTEN):c.132C>T (p.Gly44=)	rs150651961	0.00168
NM_000314.8(PTEN):c.-461G>A	rs1209261790	0.00114
NM_000314.8(PTEN):c.*1028T>C	rs775039992	0.00077
NM_000314.8(PTEN):c.*282G>A	rs576872432	0.00033
NM_000314.8(PTEN):c.234C>T (p.Thr78=)	rs35917308	0.00016
NM_000314.8(PTEN):c.579G>A (p.Leu193=)	rs568851024	0.00010
NM_000314.8(PTEN):c.720C>T (p.Tyr240=)	rs190070312	0.00006
NM_000314.8(PTEN):c.*2437A>G	rs886047440	0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=)	rs751888926	0.00003
NM_000314.8(PTEN):c.*1127T>A
NM_000314.8(PTEN):c.*1443T>G
NM_000314.8(PTEN):c.1446_1459del
NM_000314.8(PTEN):c.*2263ATT[1]	rs775116816
NM_000314.8(PTEN):c.*970C>A	rs773513402
NM_000314.8(PTEN):c.-175C>T
NM_000314.8(PTEN):c.-223C>A
NM_000314.8(PTEN):c.-229C>T
NM_000314.8(PTEN):c.-253G>C	rs2132143885
NM_000314.8(PTEN):c.-265G>A
NM_000314.8(PTEN):c.-289G>A	rs1589595561
NM_000314.8(PTEN):c.-322C>T
NM_000314.8(PTEN):c.-343G>T
NM_000314.8(PTEN):c.-367_-366insGG
NM_000314.8(PTEN):c.-383A>C
NM_000314.8(PTEN):c.-500GGC[6]	rs1237307954
NM_000314.8(PTEN):c.-500GGC[7]	rs1237307954
NM_000314.8(PTEN):c.-512G>C
NM_000314.8(PTEN):c.-514C>A
NM_000314.8(PTEN):c.1029G>A (p.Val343=)	rs1393550059
NM_000314.8(PTEN):c.165-24TTTG[2]	rs786204877
NM_000314.8(PTEN):c.210-7_210-3del	rs587780544
NM_000314.8(PTEN):c.909T>A (p.Ile303=)	rs878853945

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.