ClinVar Genomic variation as it relates to human health
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
Germline
Classification
(6)
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 | |||
HNF1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
600 | 812 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (2) |
|
Jul 6, 2019 | RCV000284726.10 | |
Benign/Likely benign (3) |
|
Aug 30, 2023 | RCV002056574.19 | |
Likely benign (1) |
|
Feb 4, 2022 | RCV002504095.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024