ClinVar Genomic variation as it relates to human health
NM_013444.4(UBQLN2):c.1491CATAGGCCC[1] (p.499GPI[1])
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 | |||
UBQLN2 | - | - |
GRCh38 GRCh37 |
167 | 310 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jan 17, 2024 | RCV002875998.2 | |
Likely benign (1) |
|
Jul 1, 2023 | RCV003434513.8 | |
UBQLN2-related disorder
|
Likely benign (1) |
|
May 3, 2022 | RCV003961145.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024