Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_006218.4(PIK3CA):c.1359_1373del (p.Glu453_Pro458delinsAsp)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2015)
Last evaluated:
Oct 21, 2010
Accession:
VCV000045465.1
Variation ID:
45465
Description:
15bp deletion
Help

NM_006218.4(PIK3CA):c.1359_1373del (p.Glu453_Pro458delinsAsp)

Allele ID
54632
Variant type
Deletion
Variant length
15 bp
Cytogenetic location
3q26.32
Genomic location
3: 179210293-179210307 (GRCh38) GRCh38 UCSC
3: 178928081-178928095 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.178928081_178928095del
NC_000003.12:g.179210293_179210307del
NM_006218.4:c.1359_1373del MANE Select NP_006209.2:p.Glu453_Pro458delinsAsp
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:179210292:AGATTTGCTGAACCC:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA136368
dbSNP: rs397517200
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 21, 2010 RCV000038670.3
Help
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
500 532

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 21, 2010)
criteria provided, single submitter
Method: clinical testing
Non-Small Cell Lung Cancer
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062348.4
Submitted: (Jan 29, 2015)
Evidence details

Functional evidence

Help
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

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs397517200...

Help
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 Jul 07, 2021