List of variants in gene PTEN reported 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
		ClinVar version:

Total variants: 89

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HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.*1499C>T	rs180953647	0.00272
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.79+35C>T	rs190707033	0.00130
NM_000314.8(PTEN):c.-461G>A	rs1209261790	0.00114
NM_000314.8(PTEN):c.*1583G>A	rs548599209	0.00112
NM_000314.8(PTEN):c.*1028T>C	rs775039992	0.00077
NM_000314.8(PTEN):c.*75T>A	rs74535369	0.00049
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.1061C>A (p.Pro354Gln)	rs375709098	0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=)	rs751888926	0.00003
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly)	rs587781273	0.00002
NM_000314.8(PTEN):c.1115A>G (p.Asn372Ser)	rs1370349057	0.00001
NM_000314.8(PTEN):c.1171C>T (p.Pro391Ser)	rs786203911	0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	rs121909224	0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His)	rs121913294	0.00001
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.1447_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.-260A>G
NM_000314.8(PTEN):c.-265G>A
NM_000314.8(PTEN):c.-27T>C	rs1858391629
NM_000314.8(PTEN):c.-284C>T	rs552470098
NM_000314.8(PTEN):c.-289G>A	rs1589595561
NM_000314.8(PTEN):c.-312C>T
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.-471C>T
NM_000314.8(PTEN):c.-500GGC[6]	rs1237307954
NM_000314.8(PTEN):c.-500GGC[7]	rs1237307954
NM_000314.8(PTEN):c.-501C>G
NM_000314.8(PTEN):c.-512G>C
NM_000314.8(PTEN):c.-513G>C	rs546504608
NM_000314.8(PTEN):c.-514C>A
NM_000314.8(PTEN):c.-525C>G
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	rs121909231
NM_000314.8(PTEN):c.1029G>A (p.Val343=)	rs1393550059
NM_000314.8(PTEN):c.1052_1054del (p.Val351del)	rs587780003
NM_000314.8(PTEN):c.131G>A (p.Gly44Asp)	rs1085308042
NM_000314.8(PTEN):c.136T>C (p.Tyr46His)	rs1064793325
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr)	rs1554893824
NM_000314.8(PTEN):c.155_156insCT (p.Val53fs)	rs1859099759
NM_000314.8(PTEN):c.158T>C (p.Val53Ala)	rs786203375
NM_000314.8(PTEN):c.165-1G>C	rs786203847
NM_000314.8(PTEN):c.165-24TTTG[2]	rs786204877
NM_000314.8(PTEN):c.19G>T (p.Glu7Ter)	rs1554890335
NM_000314.8(PTEN):c.210-7_210-3del	rs587780544
NM_000314.8(PTEN):c.369C>G (p.His123Gln)	rs1085308045
NM_000314.8(PTEN):c.369C>T (p.His123=)	rs1085308045
NM_000314.8(PTEN):c.376G>A (p.Ala126Thr)	rs1554898129
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)	rs121909229
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)	rs121909241
NM_000314.8(PTEN):c.395G>T (p.Gly132Val)	rs121909241
NM_000314.8(PTEN):c.434T>C (p.Phe145Ser)	rs1589646560
NM_000314.8(PTEN):c.45A>C (p.Arg15Ser)	rs1064794096
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)	rs1060500126
NM_000314.8(PTEN):c.492+1G>T	rs1554898242
NM_000314.8(PTEN):c.492+2T>G	rs1554898244
NM_000314.8(PTEN):c.493G>T (p.Gly165Ter)	rs587782603
NM_000314.8(PTEN):c.494G>T (p.Gly165Val)	rs786204863
NM_000314.8(PTEN):c.516del (p.Arg172fs)	rs1860417110
NM_000314.8(PTEN):c.517C>G (p.Arg173Gly)	rs121913293
NM_000314.8(PTEN):c.596T>C (p.Met199Thr)	rs587781538
NM_000314.8(PTEN):c.661A>G (p.Lys221Glu)
NM_000314.8(PTEN):c.66C>G (p.Asp22Glu)	rs786201335
NM_000314.8(PTEN):c.67T>G (p.Leu23Val)	rs876661244
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	rs121909219
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)	rs587782350
NM_000314.8(PTEN):c.800del (p.Lys267fs)	rs121913289
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn)	rs1554825266
NM_000314.8(PTEN):c.802-2A>G	rs587782455
NM_000314.8(PTEN):c.881G>A (p.Ser294Asn)	rs1175543698
NM_000314.8(PTEN):c.901G>T (p.Asp301Tyr)	rs758644748
NM_000314.8(PTEN):c.909T>A (p.Ile303=)	rs878853945
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys)	rs1064794436
NM_000314.8(PTEN):c.946_947del (p.Leu316fs)	rs1860627982

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