ClinVar Genomic variation as it relates to human health
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys)
Germline
Classification
Somatic
No data submitted for somatic clinical impact
Somatic
Oncogenicity
Likely oncogenic
This classification is based on the single submission received
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
PIK3CA | No evidence available | No evidence available |
GRCh38 GRCh37 |
1369 | 1404 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
Sep 16, 2024 | RCV000038669.6 | |
Pathogenic (1) |
|
Oct 10, 2023 | RCV003458192.1 | |
PIK3CA-related disorder
|
Likely pathogenic (1) |
|
Jan 31, 2024 | RCV004534818.3 |
Likely pathogenic (1) |
|
- | RCV001256198.3 |
Citations for germline classification of this variant
HelpConditions - Somatic
Tumor type | Clinical impact (# of submissions) | Oncogenicity | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely oncogenic
|
Mar 4, 2025 | RCV004668761.2 |
Citations for somatic classification of this variant
HelpText-mined citations for rs397517199 ...
HelpThese 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 Apr 13, 2025