ClinVar Genomic variation as it relates to human health
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)
Germline
Classification
(5)
Uncertain significance
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 | |||
BBS2 | - | - |
GRCh38 GRCh37 |
1143 | 1181 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 24, 2020 | RCV001273908.1 | |
Uncertain significance (1) |
|
Mar 14, 2022 | RCV001037692.3 | |
Uncertain significance (2) |
|
Aug 2, 2023 | RCV002481859.2 | |
Uncertain significance (1) |
|
Dec 13, 2023 | RCV004536068.2 |
Citations for germline classification of this variant
HelpText-mined citations for rs181107019 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Dec 07, 2024