ClinVar Miner

Variants in gene PTEN with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 39
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.-165C>G rs575260016 0.00267
NM_000314.8(PTEN):c.-461G>A rs1209261790 0.00114
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000314.8(PTEN):c.*5T>C rs1006891299 0.00005
NM_000314.8(PTEN):c.*10T>A rs769236743 0.00004
NM_000314.8(PTEN):c.-105G>T rs1316552000 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.159A>G (p.Val53=) rs189583426 0.00003
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000314.8(PTEN):c.261A>G (p.Gln87=) rs149772796 0.00002
NM_000314.8(PTEN):c.1062G>A (p.Pro354=) rs786202751 0.00001
NM_000314.8(PTEN):c.114T>G (p.Pro38=) rs748040144 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000314.8(PTEN):c.253+4G>A rs1060500112 0.00001
NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys) rs757498880 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000314.8(PTEN):c.*10dup rs756681683
NM_000314.8(PTEN):c.-312C>T
NM_000314.8(PTEN):c.-500GGC[7] rs1237307954
NM_000314.8(PTEN):c.-735G>A rs886047384
NM_000314.8(PTEN):c.1005A>G (p.Arg335=) rs1303065649
NM_000314.8(PTEN):c.1027-4C>G rs587782788
NM_000314.8(PTEN):c.1161A>G (p.Pro387=) rs1057523975
NM_000314.8(PTEN):c.174T>C (p.Asp58=) rs769719835
NM_000314.8(PTEN):c.209+3A>G rs786202612
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.228T>C (p.Tyr76=) rs1554897866
NM_000314.8(PTEN):c.253+4_253+7del rs876659695
NM_000314.8(PTEN):c.369C>T (p.His123=) rs1085308045
NM_000314.8(PTEN):c.42G>A (p.Arg14=) rs1064794513
NM_000314.8(PTEN):c.493-7C>T rs1554900492
NM_000314.8(PTEN):c.759C>T (p.Ile253=) rs752250585
NM_000314.8(PTEN):c.79+7A>T rs374331677
NM_000314.8(PTEN):c.80-5C>T rs1060503842
NM_000314.8(PTEN):c.801+9T>C rs1060503839
NM_000314.8(PTEN):c.802-3T>A rs587780712

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