Project HERA

PIK3CA variants

Every PIK3CA variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

40 variants

PIK3CA variants

Newest first. Each row opens the full report, criterion by criterion.

40 shown
Variant
Protein change
Classification
PIK3CA NM_006218.4:c.3189dup
NP_006209.2:p.(Q1064Tfs*9)
VUS
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PIK3CA NM_006218.4:c.1214C>A
NP_006209.2:p.(S405Y)
VUS
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PIK3CA NM_006218.4:c.278G>T
NP_006209.2:p.(R93L)
VUS
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PIK3CA NM_006218.4:c.268T>C
NP_006209.2:p.(C90R)
VUS
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PIK3CA NM_006218.4:c.317G>C
NP_006209.2:p.(G106A)
VUS
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PIK3CA NM_006218.4:c.1346C>T
NP_006209.2:p.(P449L)
VUS
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PIK3CA NM_006218.3:c.277C>T
NP_006209.2:p.(R93W)
VUS
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PIK3CA NM_006218.3:c.946C>T
NP_006209.2:p.(P316S)
VUS
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PIK3CA NM_006218.4:c.1911+19G>T
NP_006209.2:p.?
VUS
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PIK3CA NM_006218.4:c.397G>A
NP_006209.2:p.(D133N)
VUS
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PIK3CA NM_006218.4:c.2850A>G
NP_006209.2:p.(E950=)
VUS
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PIK3CA NM_006218.4:c.1458C>T
NP_006209.2:p.(F486=)
VUS
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PIK3CA NM_006218.4:c.2937-15T>C
NP_006209.2:p.?
VUS
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PIK3CA NM_006218.3:c.3133G>A
NP_006209.2:p.(D1045N)
VUS
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PIK3CA NM_006218.3:c.370C>T
NP_006209.2:p.(P124S)
VUS
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PIK3CA NM_006218.4:c.2016-11G>A
NP_006209.2:p.?
VUS
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PIK3CA NM_006218.4:c.2042G>C
NP_006209.2:p.(S681T)
VUS
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PIK3CA NM_006218.4:c.1324G>C
NP_006209.2:p.(A442P)
VUS
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PIK3CA NM_006218.3:c.2176G>A
NP_006209.2:p.(E726K)
Likely Pathogenic
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PIK3CA NM_006218.4:c.112C>T
NP_006209.2:p.(R38C)
VUS
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PIK3CA NM_006218.4:c.1930T>C
NP_006209.2:p.(Y644H)
VUS
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PIK3CA NM_006218.4:c.1132T>C
NP_006209.2:p.(C378R)
VUS
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PIK3CA NM_006218.2:c.2040T>C
NP_006209.2:p.(V680=)
VUS
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PIK3CA NM_006218.4:c.371C>A
NP_006209.2:p.(P124Q)
VUS
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PIK3CA NM_006218.4:c.335T>C
NP_006209.2:p.(I112T)
VUS
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PIK3CA NM_006218.2:c.3140A>G
NP_006209.2:p.(H1047R)
Likely Pathogenic
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PIK3CA NM_006218.2:c.1631C>A
NP_006209.2:p.(T544N)
VUS
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PIK3CA NM_006218.2:c.93A>G
NP_006209.2:p.(I31M)
VUS
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PIK3CA NM_006218.4:c.2171A>G
NP_006209.2:p.(K724R)
VUS
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PIK3CA NM_006218.2:c.1173A>G
NP_006209.2:p.(I391M)
Benign
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PIK3CA NM_006218.2:c.1624G>A
NP_006209.2:p.(E542K)
VUS
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PIK3CA NM_006218.2:c.2740G>A
NP_006209.2:p.(G914R)
VUS
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PIK3CA NM_006218.2:c.2176G>A
NP_006209.2:p.(E726K)
VUS
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PIK3CA NM_006218.2:c.2198A>G
NP_006209.2:p.(K733R)
Benign
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PIK3CA NM_006218.2:c.2015+9A>G
NP_006209.2:p.?
Likely Benign
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PIK3CA NM_006218.4:c.1255_1264delinsA
NP_006209.2:p.(H419_L422delinsM)
VUS
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PIK3CA NM_006218.4:c.1265del
NP_006209.2:p.(L422Wfs*6)
VUS
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PIK3CA NM_006218.4:c.2782C>T
NP_006209.2:p.(Q928*)
VUS
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PIK3CA NM_006218.4:c.3203dup
NP_006209.2:p.(N1068Kfs*5)
—
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PIK3CA NM_006218.4:c.412G>T
NP_006209.2:p.(D138Y)
VUS
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