ClinVar Miner

Variants in gene PTEN with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
1039 275 1 76 33 1 34 130

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 55 15 2 0 1
likely pathogenic 55 0 25 0 0 0
uncertain significance 15 25 1 29 9 1
likely benign 2 0 29 0 21 0
benign 0 0 9 21 0 0
risk factor 1 0 1 0 0 0

All variants with conflicting interpretations #

Total variants: 130
Download table as spreadsheet
HGVS dbSNP
NM_000314.4(PTEN):c.-764G>A rs587776674
NM_000314.4(PTEN):c.1104T>C (p.Asp368=) rs35979531
NM_000314.4(PTEN):c.1133_1136delGATA (p.Arg378Ilefs) rs1064794878
NM_000314.4(PTEN):c.165-1G>A rs786203847
NM_000314.4(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.4(PTEN):c.254-1G>A rs1057520208
NM_000314.4(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.4(PTEN):c.379G>A (p.Gly127Arg) rs587781255
NM_000314.4(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.4(PTEN):c.39_40delAA (p.Arg14Glufs) rs587776671
NM_000314.4(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.4(PTEN):c.44G>A (p.Arg15Lys) rs398123324
NM_000314.4(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.4(PTEN):c.610C>G (p.Pro204Ala) rs786204868
NM_000314.4(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000314.4(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.4(PTEN):c.802-2delA rs886047397
NM_000314.4(PTEN):c.947T>C (p.Leu316Pro) rs1064793345
NM_000314.4(PTEN):c.964A>T (p.Lys322Ter) rs786202004
NM_000314.4(PTEN):c.968dupA (p.Asn323Lysfs) rs121913291
NM_000314.6(PTEN):c.*10delT rs756681683
NM_000314.6(PTEN):c.*10dup rs756681683
NM_000314.6(PTEN):c.-1026C>A rs34149102
NM_000314.6(PTEN):c.-1027C>A rs587781128
NM_000314.6(PTEN):c.-121A>G rs886047395
NM_000314.6(PTEN):c.-533_-531dup rs34413673
NM_000314.6(PTEN):c.-734G>A rs886047384
NM_000314.6(PTEN):c.-837C>T rs786201900
NM_000314.6(PTEN):c.-975G>A rs587780001
NM_000314.6(PTEN):c.-9C>G rs11202592
NM_000314.6(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.6(PTEN):c.1026+1G>A rs786201041
NM_000314.6(PTEN):c.1026+1G>C rs786201041
NM_000314.6(PTEN):c.1027-2A>G rs1085308041
NM_000314.6(PTEN):c.114T>G (p.Pro38=) rs748040144
NM_000314.6(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.6(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.6(PTEN):c.159A>G (p.Val53=) rs189583426
NM_000314.6(PTEN):c.165-13_165-10delGTTT rs786204877
NM_000314.6(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.6(PTEN):c.1A>G (p.Met1Val) rs1554890324
NM_000314.6(PTEN):c.209+4_209+7delAGTA rs398123318
NM_000314.6(PTEN):c.210-39A>G rs370918174
NM_000314.6(PTEN):c.210-7_210-3del5 rs587780544
NM_000314.6(PTEN):c.210-9T>C rs751744545
NM_000314.6(PTEN):c.253+1G>A rs587776667
NM_000314.6(PTEN):c.253+1dup rs876660082
NM_000314.6(PTEN):c.253+2T>A rs1224040268
NM_000314.6(PTEN):c.253+5G>A rs1554897889
NM_000314.6(PTEN):c.253+5G>T rs1554897889
NM_000314.6(PTEN):c.254-30dupT rs77494260
NM_000314.6(PTEN):c.284C>T (p.Pro95Leu) rs786204856
NM_000314.6(PTEN):c.309delC (p.Cys105Valfs) rs1554898088
NM_000314.6(PTEN):c.320A>T (p.Asp107Val) rs786204858
NM_000314.6(PTEN):c.321T>C (p.Asp107=) rs372876243
NM_000314.6(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.6(PTEN):c.360A>C (p.Ala120=) rs759485888
NM_000314.6(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.6(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.6(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.6(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.6(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.6(PTEN):c.456A>G (p.Leu152=) rs779626613
NM_000314.6(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.6(PTEN):c.470A>G (p.Glu157Gly) rs1085308051
NM_000314.6(PTEN):c.492+14dup rs1064793690
NM_000314.6(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.6(PTEN):c.518G>A (p.Arg173His) rs121913294
NM_000314.6(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.6(PTEN):c.564T>A (p.Tyr188Ter) rs606231170
NM_000314.6(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.6(PTEN):c.579G>A (p.Leu193=) rs568851024
NM_000314.6(PTEN):c.634+5G>C rs138336847
NM_000314.6(PTEN):c.635-3C>G rs1085308056
NM_000314.6(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.6(PTEN):c.70G>C (p.Asp24His) rs786201995
NM_000314.6(PTEN):c.720C>T (p.Tyr240=) rs190070312
NM_000314.6(PTEN):c.75G>A (p.Leu25=) rs786201506
NM_000314.6(PTEN):c.761_765delAAGTA (p.Lys254Argfs) rs606231169
NM_000314.6(PTEN):c.78C>A (p.Thr26=) rs786201280
NM_000314.6(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.6(PTEN):c.79+35C>T rs190707033
NM_000314.6(PTEN):c.80-1G>C rs786204914
NM_000314.6(PTEN):c.801+1delG rs1060500110
NM_000314.6(PTEN):c.802-12T>C rs587781129
NM_000314.6(PTEN):c.802-2A>G rs587782455
NM_000314.6(PTEN):c.802-3delT rs34003473
NM_000314.6(PTEN):c.802-4_802-3dupTT rs34003473
NM_000314.6(PTEN):c.802-51_802-14del38 rs557364463
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) rs587776672
NM_000314.6(PTEN):c.80A>G (p.Tyr27Cys) rs886041877
NM_000314.6(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.6(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.6(PTEN):c.855A>G (p.Glu285=) rs751888926
NM_000314.6(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.6(PTEN):c.865_866insCT (p.Lys289Thrfs) rs1554825530
NM_000314.6(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.6(PTEN):c.975_988delTGACAAAGCAAATAinsCGCTT (p.Asp326_Val403delinsAla) rs1114167640
NM_000314.6(PTEN):c.97_99delATT (p.Ile33del) rs1554893765
NM_000314.7(PTEN):c.*5T>C rs1006891299
NM_000314.7(PTEN):c.-246C>T rs886047393
NM_000314.7(PTEN):c.-798G>C rs587779992
NM_000314.7(PTEN):c.-909T>C rs550385924
NM_000314.7(PTEN):c.-975G>C rs587780001
NM_000314.7(PTEN):c.1027-1G>A rs1057517809
NM_000314.7(PTEN):c.1027-4C>G rs587782788
NM_000314.7(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.7(PTEN):c.112C>T (p.Pro38Ser) rs587780004
NM_000314.7(PTEN):c.170T>G (p.Leu57Trp) rs786202398
NM_000314.7(PTEN):c.181C>G (p.His61Asp) rs121909236
NM_000314.7(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.7(PTEN):c.270dup (p.Glu91Terfs) rs1114167678
NM_000314.7(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.7(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.7(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.7(PTEN):c.500C>A (p.Thr167Asn) rs397514559
NM_000314.7(PTEN):c.509G>T (p.Ser170Ile) rs876660507
NM_000314.7(PTEN):c.510T>A (p.Ser170Arg) rs121909221
NM_000314.7(PTEN):c.651C>T (p.Val217=) rs886038278
NM_000314.7(PTEN):c.693C>T (p.Pro231=) rs1064795327
NM_000314.7(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.7(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.7(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.7(PTEN):c.79+20C>G rs587781291
NM_000314.7(PTEN):c.79+7A>G rs374331677
NM_000314.7(PTEN):c.79+7A>T rs374331677
NM_000314.7(PTEN):c.884_900del17insG (p.Leu295Argfs) rs1114167680

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