ClinVar Genomic variation as it relates to human health
NM_002645.4(PIK3C2A):c.4269A>T (p.Arg1423=)
Germline
Classification
(2)
Benign
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 | |||
PIK3C2A | - | - |
GRCh38 GRCh37 |
388 | 408 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jan 22, 2024 | RCV003001846.2 | |
PIK3C2A-related disorder
|
Benign (1) |
|
Nov 25, 2019 | RCV003943697.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024