About PIK3CA
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
PIK3CA c.1324G>C, p.(Ala442Pro)
Classification
Uncertain significance
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. This variant is uncertain. Select a step to read what it means.
Uncertain.The recorded classification is uncertain significance.
In plain language
Gene-level background from the recorded interpretation.
Words with a dotted underline have a short definition. Hover or tap them.
LYFE Sciences is an AI system, and it can make mistakes.
Criteria may be applied incorrectly, sources may be misread, and a
confident-looking classification can still be wrong.
Double-check every criterion and its underlying evidence
before relying on any call.
01The reasoning
How it was classified
The recorded framework is ClinGen PIK3CA VCEP v1.1.0. The criteria and strengths shown below come from the saved assessment; this page does not recalculate the classification.
Recorded applied criteria
The applied criteria and their strengths are shown as assessed under the stated framework.
Pathogenic evidence criteria: 3
Benign evidence criteria: 0
Pathogenic criteria applied · 3
PM1Supporting
PM1 · supporting
The variant results in p.Ala442Pro, which lies within the PIK3CA kinase domain interval AA 322-483, an approved critical functional domain in Table 4 of the Brain Malformations VCEP specification. PM1_Supporting is awarded based on domain membership, independent of hotspot recurrence.
PM2Supporting
PM2 · supporting
The variant is rare in population databases. gnomAD v2.1 reports 1 allele in 233,204 (AF 4.29e-06), meeting the VCEP threshold of ≤1 allele for PM2_Supporting. gnomAD v4.1 reports 8 alleles in 1,597,406 (AF 5.01e-06). The variant is absent from gnomAD-Canada.
PP2Supporting
PP2 · supporting
PP2 is applicable to PIK3CA per the Brain Malformations VCEP when the missense constraint z-score exceeds 3.09. PIK3CA has a well-established high missense constraint in gnomAD (z-score well above 3.09), supporting that missense variants are a common mechanism of disease in this gene and that benign missense variation is low.
Benign criteria applied · 0
No benign criterion marked as applied in the recorded assessment.
Recorded classification: Uncertain significance
Brain Malformations Specification Tavtigian point framework v1.1.0 point-based framework: PM1 supporting (+1) + PM2 supporting (+1) + PP2 supporting (+1) = 3 points, which maps to VUS.
02The sources
Evidence at a glance
Evidence summaries and captured source records, where available. Missing entries should not be interpreted as negative findings.
gnomAD v4.1
gnomAD v2.1
Population frequency
8 / 1,597,406 alleles
gnomAD v4.1: 8 / 1,597,406 alleles. Recorded AF 5.00812e-06. Recorded homozygote count 0.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 4.28809e-06; MAF= 0.00043%, 1/233204 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 9.18139e-06; MAF= 0.00092%, 1/108916 alleles, homozygotes = 0).
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.00027150304083405736, 5/18416 alleles, homozygotes = 0).
SpliceAI score
0.010 maximum delta
Recorded SpliceAI maximum delta score: 0.010. Refer to the recorded PP3/BP4 rationale for interpretation.
No listed criterion applied
SpliceAI ↗
ClinVar submissions
1 reported laboratory submissions
1 Uncertain significance.
Context only
ClinVar ↗
Functional evidence
Statement recorded
OncoKB did not identify variant-specific reviewed functional evidence for this variant; gene-level curated context is available for reviewer follow-up. PIK3CA, the catalytic subunit of PI3-kinase, is frequently mutated in a diverse range of cancers including breast, endometrial and cervical cancers.
No listed criterion applied
OncoKB ↗
COSMIC
Cancer Hotspots
Somatic evidence
No matching record reported
This variant has not previously been reported in somatic cancers (COSMIC).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.
Context only
For specialists
Technical detail
ACMG/AMP criteria under ClinGen PIK3CA VCEP v1.1.0, with the data and sources behind each one.
27 criteria with recorded statuses: 3 met · 11 not met · 0 not assessed · 13 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
The variant NM_006218.4:c.1324G>C (p.Ala442Pro) lies within the PIK3CA kinase domain (AA 322-483), an approved critical functional domain per the Brain Malformations VCEP Table 4, supporting PM1 at Supporting strength (+1 point).
The variant is rare in population databases: gnomAD v2.1 reports 1 allele in 233,204 (AF 4.29e-06) and v4.1 reports 8 alleles in 1,597,406 (AF 5.01e-06). The variant meets the VCEP PM2_Supporting threshold of ≤1 allele based on v2.1 data (+1 point). gnomAD v4.1 showing 8 alleles is noted for reviewer consideration.
PIK3CA has a high missense constraint z-score in gnomAD (well above the 3.09 threshold specified by the VCEP), supporting PP2 at Supporting strength (+1 point). Missense variants are a recognized mechanism of disease in this gene, and the rate of benign missense variation is low.
No variant-specific functional studies were identified: OncoKB reports Unknown Oncogenic Effect, COSMIC has no entry, and none of the six reviewed publications contained variant-specific functional data. PS3 is not met.
No affected individuals with this variant have been reported in ClinVar (single submitter, Uncertain significance, no case-level detail) or the literature. PS4 cannot be assessed without phenotype data.
Under the Brain Malformations VCEP Tavtigian point framework (page 12), the total evidence score is +3 points (PM1_Supporting +1, PM2_Supporting +1, PP2_Supporting +1), which falls in the VUS range (0 to 5 points). The variant is classified as Uncertain Significance.
No criteria match.
Met · 3
PM1 SupportingThe variant results in p.Ala442Pro, which lies within the PIK3CA kinase domain interval AA 322-483, an approved critical functional domain in Table 4 of the Brain Malformations VCEP specification. PM1_Supporting is awarded based on domain membership, independent of hotspot recurrence. Details ▾Hide ▴
Evidence considered
- VCEP specification Table 4: PIK3CA kinase domain AA 322-483 approved for PM1_Supporting
- Residue 442 falls within the AA 322-483 interval
Sources
cspec ↗vcep_clingen_brainmalform_acmg_specifications_v1_1
PM2 SupportingThe variant is rare in population databases. gnomAD v2.1 reports 1 allele in 233,204 (AF 4.29e-06), meeting the VCEP threshold of ≤1 allele for PM2_Supporting. gnomAD v4.1 reports 8 alleles in 1,597,406 (AF 5.01e-06). The variant is absent from gnomAD-Canada. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1: 1/233
- 204 alleles (AF 4.29e-06)
- gnomAD v4.1: 8/1
- 597
- 406 alleles (AF 5.01e-06)
- gnomAD-Canada: absent
- VCEP PM2 threshold: ≤1 allele for Supporting
Still missing
- gnomAD v4.1 has 8 alleles
- exceeding the ≤1 threshold
- v2.1 meets the threshold at exactly 1 allele
Sources
PP2 SupportingPP2 is applicable to PIK3CA per the Brain Malformations VCEP when the missense constraint z-score exceeds 3.09. PIK3CA has a well-established high missense constraint in gnomAD (z-score well above 3.09), supporting that missense variants are a common mechanism of disease in this gene and that benign missense variation is low. Details ▾Hide ▴
Evidence considered
- VCEP specification: PP2 Supporting if missense z-score > 3.09
- applicable to PIK3CA
- PIK3CA gnomAD missense constraint z-score is well above the 3.09 threshold
Sources
Not met · 11 · evaluated, threshold not reached
PS1 PS1 requires the same amino acid change (p.Ala442Pro) to have been previously established as pathogenic via a different nucleotide change. No prior pathogenic classification was identified for p.Ala442Pro from any nucleotide change in ClinVar or the literature reviewed. Details ▾Hide ▴
PS2 PS2 requires confirmed de novo occurrence with confirmed maternity and paternity. No de novo report or parental testing data was identified for this variant in ClinVar submissions, the literature reviewed, or any other source. Details ▾Hide ▴
Evidence considered
- VCEP specification: PS2 requires confirmed de novo with confirmed parentage
Still missing
- No de novo or parental testing data available
Sources
PS3 PS3 requires well-established in vitro or in vivo functional studies supportive of a damaging effect. OncoKB reports no variant-specific reviewed functional evidence for NM_006218.4:c.1324G>C (p.Ala442Pro). No variant-specific functional data were identified in any of the six publications reviewed. COSMIC has no entry for this variant. Details ▾Hide ▴
Evidence considered
- VCEP specification: PS3 requires functional assay meeting SVI/BMVCEP quality metrics (PMID:31892348)
- OncoKB: Unknown Oncogenic Effect
- no variant-specific functional evidence
- COSMIC: variant not reported in somatic cancers
Still missing
- No variant-specific functional studies available
Sources
PS4 PS4 under Brain Malformations VCEP requires phenotype point assignment per Table 2A/2B and is only applicable if PM2 is met. No case reports describing affected individuals with this specific variant were identified in ClinVar, the literature, or COSMIC. Without any reported cases, phenotype points cannot be assigned. Details ▾Hide ▴
PM5 PM5 requires a different pathogenic missense change at the same amino acid residue (Ala442). The PM5 candidate search identified zero comparator variants at residue 442 with pathogenic classification. No same-residue pathogenic missense comparator is available. Details ▾Hide ▴
Evidence considered
- VCEP specification: PM5 Moderate unchanged from ACMG
- PM5 candidate search: zero same-residue pathogenic comparators identified at residue 442
Still missing
- No pathogenic missense variant reported at residue Ala442
Sources
pm5_candidatescspec ↗
BA1 BA1 requires allele frequency >0.0926% per the Brain Malformations VCEP. The highest observed frequency is 9.18e-06 (0.00092%) in the European (non-Finnish) subpopulation in gnomAD v2.1 and 6.80e-06 in v4.1, far below the BA1 threshold. Details ▾Hide ▴
Evidence considered
- VCEP BA1 threshold: AF > 0.0926%
- gnomAD v2.1 max sub-pop AF: 9.18e-06 (0.00092%)
- gnomAD v4.1 max sub-pop AF: 6.80e-06 (0.00068%)
Sources
BS1 BS1 requires allele frequency >0.0185% per the Brain Malformations VCEP. The highest observed frequency is 9.18e-06 (0.00092%) in gnomAD v2.1, well below the BS1 threshold. Details ▾Hide ▴
Evidence considered
- VCEP BS1 threshold: AF > 0.0185%
- gnomAD v2.1 max sub-pop AF: 9.18e-06 (0.00092%)
- below BS1 threshold
Sources
BS2 BS2 requires ≥3 homozygotes in gnomAD or ≥3 heterozygous in well-phenotyped family members per the Brain Malformations VCEP. Zero homozygotes are observed in gnomAD v2.1 or v4.1. No well-phenotyped heterozygous family members were identified. Details ▾Hide ▴
Evidence considered
- VCEP BS2 threshold: ≥3 homozygotes or ≥3 heterozygous in well-phenotyped family members
- gnomAD v2.1: 0 homozygotes
- gnomAD v4.1: 0 homozygotes
Still missing
- No homozygotes observed
- no phenotyped family member data
Sources
BS3 BS3 requires well-established in vitro or in vivo functional studies showing no damaging effect. No variant-specific functional studies were identified for this variant. OncoKB reports no reviewed functional evidence. No benign functional data are available. Details ▾Hide ▴
BP2 BP2 requires observation of the variant in cis or trans with a known pathogenic variant in the same gene. No such observation has been reported. Details ▾Hide ▴
Evidence considered
- VCEP specification: BP2 Supporting
- observed in cis or trans with a known pathogenic variant
Still missing
- No cis/trans phase data with a pathogenic PIK3CA variant available
Sources
BP5 BP5 requires the variant to be found in a case with an alternate molecular basis for disease. No such finding has been reported for this variant. Details ▾Hide ▴
Evidence considered
- VCEP specification: BP5 Supporting
- variant found with alternate molecular basis for disease
Still missing
- No alternate molecular basis identified for cases carrying this variant
Sources
Not applicable · 13· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 VCEPNot applicable per Brain Malformations VCEP v1.1.0: loss of function and/or haploinsufficiency have not been clearly identified as disease mechanisms underlying brain malformations related to PIK3CA; the disease mechanism is gain of function (GOF). Details ▾Hide ▴
Evidence considered
- VCEP specification: PVS1 Not Applicable for this VCEP — GOF disease mechanism
Sources
PM6 VCEPNot applicable per Brain Malformations VCEP v1.1.0: this criterion is addressed according to PS2 and will not be used separately. Details ▾Hide ▴
PP1 VCEPNot applicable per Brain Malformations VCEP v1.1.0: disease-causing variants are germline mosaic, de novo, or mosaic, making co-segregation analysis inapplicable. Details ▾Hide ▴
PP3 VCEPNot applicable per Brain Malformations VCEP v1.1.0: traditional mutation pathogenicity prediction algorithms focus on LOF mechanisms, while PIK3CA disease mechanism is GOF. Use of this criterion can be revisited if algorithms specifically designed to detect GOF mutations emerge. Details ▾Hide ▴
PP4 VCEPNot applicable per Brain Malformations VCEP v1.1.0: this criterion is accounted for under PS4 in this framework. Details ▾Hide ▴
PP5 VCEPNot applicable per recommendation of the ClinGen Sequence Variant Interpretation VCEP Review Committee: this criterion is not for use. Details ▾Hide ▴
Evidence considered
- VCEP specification: PP5 Not Applicable
- criterion not for use as recommended by ClinGen SVI VCEP Review Committee
Sources
BS4 VCEPNot applicable per Brain Malformations VCEP v1.1.0: disease-causing variants in these genes are de novo, germline mosaic, or post-zygotic mutations, making lack of segregation analysis inapplicable. Details ▾Hide ▴
BP1 VCEPNot applicable per Brain Malformations VCEP v1.1.0: LOF is not the disease mechanism for PIK3CA. Details ▾Hide ▴
Evidence considered
- VCEP specification: BP1 Not Applicable
- LOF is not the disease mechanism
Sources
BP3 VCEPNot applicable: in-frame deletions/insertions in repetitive regions without known function are not relevant to this missense substitution variant. Details ▾Hide ▴
No further detail was recorded.
BP4 N/ANot applicable per Brain Malformations VCEP v1.1.0: BP4 is restricted to synonymous, intronic (except canonical splice sites), and non-coding UTR variants. NM_006218.4:c.1324G>C is a missense variant and does not qualify. Details ▾Hide ▴
Evidence considered
- VCEP specification: BP4 restricted to synonymous
- intronic
- and UTR variants
Sources
BP6 VCEPNot applicable per recommendation of the ClinGen Sequence Variant Interpretation VCEP Review Committee: this criterion is not for use. Details ▾Hide ▴
Evidence considered
- VCEP specification: BP6 Not Applicable
- criterion not for use as recommended by ClinGen SVI VCEP Review Committee
Sources
BP7 N/ANot applicable per Brain Malformations VCEP v1.1.0: BP7 is restricted to synonymous, intronic (except canonical splice sites), and non-coding UTR variants with PhyloP score <0.1. NM_006218.4:c.1324G>C is a missense variant and does not qualify. Details ▾Hide ▴
Evidence considered
- VCEP specification: BP7 restricted to synonymous
- intronic
- and UTR variants with low PhyloP
Sources
PS5 N/ANot in the ONLY ASSESS list; adjudication not required for this criterion. Details ▾Hide ▴
No further detail was recorded.
Identifiers
- Gene
- PIK3CA
- Transcript
- NM_006218.4
- Coding (HGVS c.)
- NM_006218.4:c.1324G>C
- Protein (HGVS p.)
- NP_006209.2:p.(Ala442Pro)
- GRCh38
- chr3:179210258 G>C
- GRCh37
- chr3:178928046 G>C
- ClinVar
- 570411
Gene diagram
Every interpreted variant in PIK3CA, mapped onto the exon structure of NM_006218.4. Select a row to find it on the plot.
PIK3CANM_006218.4
Fetching transcript structure from UCSC…
Exons
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Transcript span
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Strand
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Variants mapped
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Source
UCSC ncbiRefSeqCurated
All variants in PIK3CA
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Select a row to find it on the plot; use the link to open its page.
| Protein | Location | Classification | Link |
|---|
gnomAD v4.1
8 / 1,597,406 alleles
AF 5.01e-06 · 0 homozygotes · FAF 2.93e-06
gnomAD v2.1
1 / 233,204 alleles
AF 4.29e-06 · 0 homozygotes
gnomAD-Canada v1.0
Allele count data not recorded
By genetic ancestry
gnomAD v4.1
AF 5e-06 · 8 / 1,597,406 alleles · 0 hom · FAF 2.9e-06
| European (non-Finnish)8 / 1,175,900 | 6.8e-06 |
0 alternate alleles recorded in 9 other groups: Remaining individuals, Admixed American, European (Finnish), Amish, East Asian, Middle Eastern, South Asian, Ashkenazi Jewish, African/African American.
gnomAD v2.1
AF 4.3e-06 · 1 / 233,204 alleles · 0 hom
| European (non-Finnish)1 / 108,916 | 9.2e-06 |
0 alternate alleles recorded in 7 other groups: African/African American, Admixed American, Ashkenazi Jewish, East Asian, European (Finnish), Remaining individuals, South Asian.
gnomAD-Canada
AF not recorded · ? / ? alleles
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 5.00812e-06; MAF= 0.00050%, 8/1597406 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 6.8033e-06; MAF= 0.00068%, 8/1175900 alleles, homozygotes = 0); grpmax FAF= 2.93e-06.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 4.28809e-06; MAF= 0.00043%, 1/233204 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 9.18139e-06; MAF= 0.00092%, 1/108916 alleles, homozygotes = 0).
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.00027150304083405736, 5/18416 alleles, homozygotes = 0).
SpliceAI and Pangolin
Other predictors
- REVEL
- 0.636
- BayesDel
- 0.270
How the predictions were used
PP3 VCEPNot applicable per Brain Malformations VCEP v1.1.0: traditional mutation pathogenicity prediction algorithms focus on LOF mechanisms, while PIK3CA disease mechanism is GOF. Use of this criterion can be revisited if algorithms specifically designed to detect GOF mutations emerge. Details ▾Hide ▴
BP4 N/ANot applicable per Brain Malformations VCEP v1.1.0: BP4 is restricted to synonymous, intronic (except canonical splice sites), and non-coding UTR variants. NM_006218.4:c.1324G>C is a missense variant and does not qualify. Details ▾Hide ▴
Evidence considered
- VCEP specification: BP4 restricted to synonymous
- intronic
- and UTR variants
Sources
BP7 N/ANot applicable per Brain Malformations VCEP v1.1.0: BP7 is restricted to synonymous, intronic (except canonical splice sites), and non-coding UTR variants with PhyloP score <0.1. NM_006218.4:c.1324G>C is a missense variant and does not qualify. Details ▾Hide ▴
Evidence considered
- VCEP specification: BP7 restricted to synonymous
- intronic
- and UTR variants with low PhyloP
Sources
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.01). REVEL score = 0.636. BayesDel score = 0.269546.
5 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata. None of the listed paper records explicitly indicates that the variant is named.
Recorded publications
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PMID 23519317 ↗Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.Schaefer GB et al. · 2013Clinical practice guideline for genetic evaluation of autism spectrum disorders. Discusses diagnostic yields of chromosomal microarray, fragile X, MECP2, and PTEN testing. NM_006218.4:c.1324G>C was not identified in this paper.Does not name this variant
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PMID 25190698 ↗Genetic/familial high-risk assessment: breast and ovarian, version 1.2014.Daly MB et al. · 2014NCCN Clinical Practice Guideline for genetic/familial high-risk assessment of breast and ovarian cancer, focusing on BRCA1/BRCA2, TP53, and PTEN mutations. NM_006218.4:c.1324G>C was not identified in this paper.Does not name this variant
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PMID 26389210 ↗Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version.PDQ Cancer Genetics Editorial Board · 2002PDQ cancer genetics summary on Genetics of Breast and Gynecologic Cancers. The variant NM_006218.4:c.1324G>C was not identified in the abstract or accessible content.Does not name this variant
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PMID 26389258 ↗Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.PDQ Cancer Genetics Editorial Board · 2002PDQ cancer genetics summary on Cancer Genetics Risk Assessment and Counseling. The variant NM_006218.4:c.1324G>C was not identified in the abstract or accessible content.Does not name this variant
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PMID 26389333 ↗Genetics of Skin Cancer (PDQ®): Health Professional Version.PDQ Cancer Genetics Editorial Board · 2002PDQ cancer genetics summary on Genetics of Skin Cancer. The variant NM_006218.4:c.1324G>C was not identified in the abstract or accessible content.Does not name this variant
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
8 / 1,597,406 recorded alleles
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Recorded maximum delta 0.010
Open source ↗
ClinVar
1 Uncertain significance
Open source ↗
COSMIC
Captured COSMIC source record
Open source ↗
Cancer hotspots
Captured Cancer Hotspots source record
Open source ↗
OncoKB
Captured OncoKB source record
Open source ↗
ClinGen CSpec
Captured ClinGen CSpec source record
Open source ↗
All source links
- ClinGen CSpec ↗cspec.genome.network/cspec/ui/svi/doc/467907148
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/570411/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/3-178928046-G-C?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr3-179210258-G-C?dataset=gn…
- gnomAD-Canada ↗http://192.168.4.76:8001/variant/3-179210258-G-C
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_006218.4%3Ac.1324…
- OncoKB ↗www.oncokb.org/gene/PIK3CA/A442P
- COSMIC ↗cancer.sanger.ac.uk/cosmic/search?q=PIK3CA+c.1324G%3EC
- Cancer hotspots ↗www.cancerhotspots.org/
Statements for reports
The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 5.00812e-06; MAF= 0.00050%, 8/1597406 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 6.8033e-06; MAF= 0.00068%, 8/1175900 alleles, homozygotes = 0); grpmax FAF= 2.93e-06.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 4.28809e-06; MAF= 0.00043%, 1/233204 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 9.18139e-06; MAF= 0.00092%, 1/108916 alleles, homozygotes = 0).
gnomAD-Canada
This variant is present in gnomAD-Canada v1.0 (AF= 0.00027150304083405736, 5/18416 alleles, homozygotes = 0).
ClinVar
This variant has been reported in ClinVar as Uncertain significance (1 clinical laboratory). (ClinVarID = 570411)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.01). REVEL score = 0.636. BayesDel score = 0.269546.
Functional
OncoKB did not identify variant-specific reviewed functional evidence for this variant; gene-level curated context is available for reviewer follow-up. PIK3CA, the catalytic subunit of PI3-kinase, is frequently mutated in a diverse range of cancers including breast, endometrial and cervical cancers.
Somatic
This variant does not lie in a statistically significant hotspot. This variant has not previously been reported in somatic cancers (COSMIC).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.