ClinVar Genomic variation as it relates to human health
NM_013444.4(UBQLN2):c.1068C>A (p.Ala356=)
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 | |||
UBQLN2 | - | - |
GRCh38 GRCh37 |
163 | 305 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 9, 2023 | RCV003525839.1 | |
UBQLN2-related disorder
|
Likely benign (1) |
|
Jun 5, 2019 | RCV003929228.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024