ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p21.2-21.1(chr3:51975459-52561678)x4
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
BAP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2777 | 2793 | |
ABHD14A | - | - |
GRCh38 GRCh37 |
- | 34 | |
ABHD14B | - | - | - |
GRCh38 GRCh37 |
15 | 23 |
ACY1 | - | - |
GRCh38 GRCh37 |
1 | 160 | |
ALAS1 | - | - |
GRCh38 GRCh37 |
32 | 44 | |
DNAH1 | - | - |
GRCh38 GRCh37 |
2166 | 2184 | |
DUSP7 | - | - |
GRCh38 GRCh37 |
8 | 20 | |
GLYCTK | - | - |
GRCh38 GRCh37 |
170 | 182 | |
GPR62 | - | - |
GRCh38 GRCh37 |
14 | 23 | |
MIRLET7G | - | - |
GRCh38 GRCh37 |
- | 12 |
There are 15 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 10, 2020 | RCV001259685.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022