ClinVar Genomic variation as it relates to human health
NM_016203.4(PRKAG2):c.125C>T (p.Ser42Phe)
Germline
Classification
(2)
Uncertain significance
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 | |||
PRKAG2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1133 | 1311 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 17, 2023 | RCV002914455.3 | |
Uncertain significance (1) |
|
Nov 6, 2022 | RCV003533313.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024