ClinVar Genomic variation as it relates to human health
NM_001626.6(AKT2):c.597C>T (p.Thr199=)
Germline
Classification
(2)
Likely benign
criteria provided, single submitter
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 | |||
AKT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
168 | 179 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 4, 2024 | RCV003802086.2 | |
AKT2-related disorder
|
Likely benign (1) |
|
Apr 18, 2019 | RCV003949026.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024