ClinVar Miner

Variants in gene PIK3CA with conflicting interpretations

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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 per condition Variants with at least 2 submissions on the same condition 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 conflict
1169 33 1 32 2 1 4 35

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 drug response
pathogenic 1 23 4 0 0 0
likely pathogenic 23 0 3 0 0 1
uncertain significance 4 3 0 2 1 0
likely benign 0 0 2 0 9 0
benign 0 0 1 9 0 0
drug response 0 1 0 0 0 0

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079 0.01239
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=) rs116164892 0.00404
NM_006218.4(PIK3CA):c.*29T>C rs141178472 0.00333
NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=) rs72561481 0.00303
NM_006218.4(PIK3CA):c.2016-12C>T rs147286696 0.00275
NM_006218.4(PIK3CA):c.1747-9C>T rs201779641 0.00046
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=) rs201884756 0.00018
NM_006218.4(PIK3CA):c.318C>A (p.Gly106=) rs201193059 0.00016
NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys) rs71310379 0.00004
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) rs886042002 0.00001
NM_006218.4(PIK3CA):c.1048G>A (p.Asp350Asn) rs1064793349
NM_006218.4(PIK3CA):c.1090G>A (p.Gly364Arg) rs1576935161
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys) rs397517199
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1340_1366del (p.Pro447_Leu455del)
NM_006218.4(PIK3CA):c.1345C>A (p.Pro449Thr) rs1724674149
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.277C>T (p.Arg93Trp) rs1724342112
NM_006218.4(PIK3CA):c.3012G>A (p.Met1004Ile) rs2108429272
NM_006218.4(PIK3CA):c.3061T>C (p.Tyr1021His) rs2108429509
NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala) rs397517202
NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu) rs863225060
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3143A>G (p.His1048Arg) rs1553826184
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del) rs1724343994
NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro) rs200018596
NM_006218.4(PIK3CA):c.344G>T (p.Arg115Leu)

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