ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
2850 | 2867 | |
ABHD14A | - | - |
GRCh38 GRCh37 |
- | 35 | |
ABHD14A-ACY1 | - | - | - | GRCh38 | - | 184 |
ABHD14B | - | - | - |
GRCh38 GRCh37 |
16 | 24 |
ACTR8 | - | - |
GRCh38 GRCh37 |
37 | 60 | |
ACY1 | - | - |
GRCh38 GRCh37 |
1 | 168 | |
ALAS1 | - | - |
GRCh38 GRCh37 |
37 | 49 | |
AMIGO3 | - | - |
GRCh38 GRCh37 |
- | 49 | |
APEH | - | - |
GRCh38 GRCh37 |
31 | 42 | |
BSN | - | - |
GRCh38 GRCh37 |
382 | 399 |
There are 321 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051511.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023