ClinVar Genomic variation as it relates to human health
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)
Germline
Classification
(16)
Pathogenic
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
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 |
1283 | 1317 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
May 31, 2016 | RCV000423160.2 | |
Likely pathogenic (1) |
|
May 31, 2016 | RCV000427369.2 | |
Likely pathogenic (1) |
|
May 31, 2016 | RCV000433184.2 | |
Likely pathogenic (1) |
|
May 31, 2016 | RCV000433868.2 | |
Likely pathogenic (1) |
|
May 31, 2016 | RCV000438004.2 | |
Likely pathogenic (1) |
|
May 31, 2016 | RCV000443225.2 | |
Likely pathogenic (1) |
|
May 31, 2016 | RCV000443321.2 | |
Likely pathogenic (1) |
|
May 31, 2016 | RCV000444028.2 | |
Pathogenic (2) |
|
May 20, 2024 | RCV000485942.16 | |
Pathogenic (1) |
|
Jul 18, 2021 | RCV000631216.6 | |
Pathogenic (3) |
|
Nov 7, 2022 | RCV000767535.5 | |
Pathogenic (1) |
|
Jun 6, 2019 | RCV000852337.2 | |
Pathogenic (1) |
|
May 23, 2021 | RCV003985084.1 | |
Citations for germline classification of this variant
HelpText-mined citations for rs1057519942 ...
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 Aug 18, 2024