ClinVar Genomic variation as it relates to human health
NM_014501.3(UBE2S):c.624G>A (p.Ala208=)
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 | |||
RPL28 | - | - |
GRCh38 GRCh37 |
8 | 48 | |
UBE2S | - | - |
GRCh38 GRCh37 |
12 | 53 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 1, 2023 | RCV003457049.3 | |
Likely benign (1) |
|
Jan 4, 2024 | RCV004364730.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024