ClinVar Genomic variation as it relates to human health
NM_002734.5(PRKAR1A):c.987A>G (p.Leu329=)
Germline
Classification
(2)
Likely 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 | |||
PRKAR1A | - | - |
GRCh38 GRCh37 |
1055 | 1300 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Oct 16, 2023 | RCV003516271.1 | |
Likely benign (1) |
|
Feb 16, 2024 | RCV004369259.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024