ClinVar Genomic variation as it relates to human health
NM_001382430.1(AKT1):c.1425G>A (p.Ser475=)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(2)
Uncertain significance(1); Likely benign(2)
criteria provided, conflicting classifications
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 | |||
AKT1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
764 | 833 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Apr 25, 2022 | RCV002391924.2 | |
Likely benign (1) |
|
Sep 6, 2022 | RCV003095143.2 | |
AKT1-related disorder
|
Uncertain significance (1) |
|
Nov 29, 2022 | RCV003418492.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024