ClinVar Genomic variation as it relates to human health
NM_005751.5(AKAP9):c.24G>A (p.Lys8=)
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 | |||
AKAP9 | - | - |
GRCh38 GRCh37 |
2698 | 2787 | |
LOC129998788 | - | - | - | GRCh38 | - | 24 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 10, 2020 | RCV002431083.2 | |
Likely benign (1) |
|
May 18, 2023 | RCV003775274.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024