ClinVar Genomic variation as it relates to human health
NM_016203.4(PRKAG2):c.696G>T (p.Ala232=)
Germline
Classification
(1)
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 | |||
PRKAG2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1120 | 1296 | |
LOC129999660 | - | - | - | GRCh38 | - | 111 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jun 9, 2023 | RCV003311141.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024