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NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
15 (Most recent: Jun 14, 2021)
Last evaluated:
Jun 25, 2020
Accession:
VCV000376470.6
Variation ID:
376470
Description:
single nucleotide variant
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NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)

Allele ID
363349
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q26.32
Genomic location
3: 179210291 (GRCh38) GRCh38 UCSC
3: 178928079 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.178928079G>A
NC_000003.12:g.179210291G>A
NM_006218.4:c.1357G>A MANE Select NP_006209.2:p.Glu453Lys missense
... more HGVS
Protein change
E453K
Other names
-
Canonical SPDI
NC_000003.12:179210290:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16602904
dbSNP: rs1057519925
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, multiple submitters, no conflicts Jun 25, 2020 RCV000991209.2
Pathogenic 1 criteria provided, single submitter - RCV001526693.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000422944.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000423945.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000425038.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000430361.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000433137.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000434215.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000435327.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000440626.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000442682.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000443243.1
Likely pathogenic 1 no assertion criteria provided Dec 1, 2018 RCV000785580.1
Pathogenic 1 no assertion criteria provided - RCV001327961.1

Clinical features observed in individuals with this variant

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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
(See all)
Pathogenic
(May 06, 2019)
 criteria provided, single submitter
(ACMG Guidelines, 2015)
Method: clinical testing
 Megalencephaly-capillary malformation-polymicrogyria syndrome
(Autosomal dominant inheritance)
Allele origin: de novo
Undiagnosed Diseases Network,NIH
Accession: SCV001142587.1
Submitted: (Sep 17, 2019)
Evidence details
Pathogenic
(Jun 25, 2020)
 criteria provided, single submitter
(ACMG Guidelines, 2015)
Method: clinical testing
 Megalencephaly-capillary malformation-polymicrogyria syndrome
Allele origin: unknown
Baylor Genetics
Accession: SCV001521015.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Pathogenic
(-)
 criteria provided, single submitter
(ACMG Guidelines, 2015)
Method: clinical testing
 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
Allele origin: somatic
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV001737114.1
Submitted: (Jun 14, 2021)
Evidence details
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: SCV000506827.1
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: SCV000506828.1
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: SCV000506829.1
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: SCV000506830.1
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: SCV000506831.1
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
 Breast neoplasm
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506832.1
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: SCV000506833.1
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: SCV000506834.1
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
 Glioblastoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506835.1
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: SCV000506836.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(Dec 01, 2018)
 no assertion criteria provided
Method: research
 Neoplasm of ovary
Allele origin: somatic
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne
Accession: SCV000924154.1
Submitted: (Feb 22, 2019)
Evidence details
Pathogenic
(-)
 no assertion criteria provided
Method: provider interpretation
 Abnormality of cardiovascular system morphology
Allele origin: somatic
MAGI's Lab - Research,MAGI Group
Accession: SCV001437637.1
Submitted: (Sep 15, 2020)
Evidence details

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
http://docm.genome.wustl.edu/variants/ENST00000263967:c.1357G>A - - - -

Text-mined citations for rs1057519925...

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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 Jun 22, 2021

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