ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p11.2(chr16:29590554-30197341)x3
Germline
Classification
(1)
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 |
- | 895 | |
ALDOA | - | - |
GRCh38 GRCh37 |
1 | 559 | |
ASPHD1 | - | - | - |
GRCh38 GRCh37 |
20 | - |
C16orf54 | - | - | - |
GRCh38 GRCh37 |
- | 275 |
C16orf92 | - | - |
GRCh38 GRCh37 |
- | 296 | |
CDIPT | - | - |
GRCh38 GRCh37 |
- | 298 | |
CORO1A | - | - |
GRCh38 GRCh37 |
236 | - | |
DOC2A | - | - |
GRCh38 GRCh37 |
- | - | |
GDPD3 | - | - |
GRCh38 GRCh37 |
20 | 309 | |
HIRIP3 | - | - |
GRCh38 GRCh37 |
41 | 325 |
There are 17 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 |
---|---|---|---|---|
16p11.2 duplication syndrome
|
Pathogenic (1) |
|
Jan 3, 2022 | RCV001801338.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 02, 2023