ClinVar Genomic variation as it relates to human health
NM_022051.3(EGLN1):c.831C>T (p.Asp277=)
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 | |||
EGLN1 | - | - |
GRCh38 GRCh37 |
980 | 1084 | |
LOC129932769 | - | - | - | GRCh38 | - | 81 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 17, 2023 | RCV003099907.3 | |
Likely benign (1) |
|
Mar 3, 2022 | RCV004056041.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 25, 2024