ClinVar Genomic variation as it relates to human health
NM_000789.4(ACE):c.474C>T (p.Leu158=)
Germline
Classification
(3)
Benign/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 | |||
ACE | - | - |
GRCh38 GRCh37 |
547 | 568 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign/Likely benign (2) |
|
Nov 28, 2023 | RCV002931912.7 | |
ACE-related disorder
|
Likely benign (1) |
|
Sep 19, 2019 | RCV004548402.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024