ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p11.2(chr16:29609368-30320693)x3
Germline
Classification
(1)
Likely pathogenic
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 | |||
PRRT2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6 | 896 | |
ALDOA | - | - |
GRCh38 GRCh37 |
1 | 560 | |
ASPHD1 | - | - | - |
GRCh38 GRCh37 |
20 | 313 |
BOLA2B | - | - | - |
GRCh38 GRCh37 |
- | 98 |
C16orf54 | - | - | - |
GRCh38 GRCh37 |
1 | 275 |
C16orf92 | - | - |
GRCh38 GRCh37 |
2 | 297 | |
CDIPT | - | - |
GRCh38 GRCh37 |
13 | 298 | |
CDIPTOSP | - | - | - | GRCh38 | - | 125 |
CORO1A | - | - |
GRCh38 GRCh37 |
241 | 473 | |
CORO1A-AS1 | - | - | - | GRCh38 | - | 85 |
There are 100 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
|
Likely pathogenic (1) |
|
Jun 1, 2012 | RCV000139032.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024