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NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
28 (Most recent: Sep 15, 2020)
Last evaluated:
Dec 23, 2010
Accession:
VCV000013659.4
Variation ID:
13659
Description:
single nucleotide variant
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NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)

Allele ID
28698
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q26.32
Genomic location
3: 179218304 (GRCh38) GRCh38 UCSC
3: 178936092 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_310:g.74782A>C
P42336:p.Glu545Ala
NC_000003.11:g.178936092A>C
... more HGVS
Protein change
E545A
Other names
-
Canonical SPDI
NC_000003.12:179218303:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA123342
UniProtKB: P42336#VAR_026176
OMIM: 171834.0008
OMIM: 171834.0020
dbSNP: rs121913274
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Dec 23, 2010 RCV000154515.2
Pathogenic/Likely pathogenic 2 no assertion criteria provided May 31, 2016 RCV000014643.8
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000420659.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000419838.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000421111.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000420012.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000423900.1
Pathogenic 1 no assertion criteria provided May 31, 2016 RCV000425497.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000428526.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000427464.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000427271.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000429810.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000431339.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000431799.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000432424.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000435323.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000436993.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000433952.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000438145.1
Pathogenic 1 no assertion criteria provided May 31, 2016 RCV000437065.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000439842.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000439182.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000441159.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000441944.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000442696.1
Pathogenic 1 no assertion criteria provided - RCV001327964.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PIK3CA No evidence available No evidence available GRCh38
GRCh37
485 517

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 23, 2010)
criteria provided, single submitter
Method: clinical testing
Ovarian Cancer
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000204186.2
Submitted: (Jan 29, 2015)
Evidence details
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Brainstem glioma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000503993.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Carcinoma of gallbladder
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000503994.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Squamous cell lung carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000503995.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of brain
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000503996.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of uterine cervix
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504010.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Pathogenic
(-)
no assertion criteria provided
Method: provider interpretation
Abnormality of cardiovascular system morphology
Allele origin: somatic
MAGI's Lab - Research,MAGI Group
Accession: SCV001437640.1
Submitted: (Sep 15, 2020)
Evidence details
Pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of the large intestine
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000503986.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (11)
Other databases
http://docm.genome.wustl.edu/var…
Pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Breast neoplasm
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000503987.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (10)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Small cell lung carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000503988.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
None
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000503990.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Transitional cell carcinoma of the bladder
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000503992.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Papillary renal cell carcinoma, sporadic
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000503997.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Malignant neoplasm of body of uterus
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000503999.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Pancreatic adenocarcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504001.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Carcinoma of esophagus
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504002.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Pathogenic
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
Neoplasm of ovary
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504003.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (2)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
None
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504004.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Nasopharyngeal Neoplasms
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504005.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Adenocarcinoma of prostate
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504006.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Renal cell carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504008.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Pathogenic
(Feb 17, 2005)
no assertion criteria provided
Method: literature only
HEPATOCELLULAR CARCINOMA, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000034898.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Glioblastoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000503989.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Malignant melanoma of skin
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000503991.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Uterine Carcinosarcoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000503998.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Hepatocellular carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504000.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Adenocarcinoma of stomach
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504007.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Ovarian Serous Cystadenocarcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504009.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT Nature biotechnology 2016 PMID: 26619011
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
PI3K/AKT/mTOR inhibitors in patients with breast and gynecologic malignancies harboring PIK3CA mutations. Janku F Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2012 PMID: 22271473
Phase I, dose-escalation study of BKM120, an oral pan-Class I PI3K inhibitor, in patients with advanced solid tumors. Bendell JC Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2012 PMID: 22162589
Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. Clarke PA Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2012 PMID: 22162582
Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. De Roock W The Lancet. Oncology 2010 PMID: 20619739
Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. O'Brien C Clinical cancer research : an official journal of the American Association for Cancer Research 2010 PMID: 20453058
PIK3CA mutations predict local recurrences in rectal cancer patients. He Y Clinical cancer research : an official journal of the American Association for Cancer Research 2009 PMID: 19903786
PIK3CA mutations are not a major determinant of resistance to the epidermal growth factor receptor inhibitor cetuximab in metastatic colorectal cancer. Prenen H Clinical cancer research : an official journal of the American Association for Cancer Research 2009 PMID: 19366826
Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. She QB PloS one 2008 PMID: 18725974
An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. Stemke-Hale K Cancer research 2008 PMID: 18676830
PIK3CA mutations correlate with hormone receptors, node metastasis, and ERBB2, and are mutually exclusive with PTEN loss in human breast carcinoma. Saal LH Cancer research 2005 PMID: 15805248
Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. Kang S Proceedings of the National Academy of Sciences of the United States of America 2005 PMID: 15647370
PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. Lee JW Oncogene 2005 PMID: 15608678
The PIK3CA gene is mutated with high frequency in human breast cancers. Bachman KE Cancer biology & therapy 2004 PMID: 15254419
High frequency of mutations of the PIK3CA gene in human cancers. Samuels Y Science (New York, N.Y.) 2004 PMID: 15016963
http://docm.genome.wustl.edu/variants/ENST00000263967:c.1634A>C - - - -

Text-mined citations for rs121913274...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 06, 2021