ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p11.2(chr16:30943854-31171177)
Germline
Classification
(1)
Likely 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 | |||
SETD1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
450 | 473 | |
BCKDK | - | - |
GRCh38 GRCh37 |
148 | 169 | |
FBXL19 | - | - |
GRCh38 GRCh37 |
36 | 57 | |
HSD3B7 | - | - |
GRCh38 GRCh37 |
154 | 181 | |
KAT8 | - | - |
GRCh38 GRCh37 |
75 | 95 | |
ORAI3 | - | - |
GRCh38 GRCh37 |
19 | 43 | |
PRSS36 | - | - |
GRCh38 GRCh37 |
55 | 85 | |
PRSS53 | - | - |
GRCh38 GRCh37 |
41 | 65 | |
PRSS8 | - | - |
GRCh38 GRCh37 |
16 | 35 | |
STX1B | - | - |
GRCh38 GRCh37 |
358 | 389 |
There are 4 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 1, 2022 | RCV002052525.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022