ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p22.1(chr7:4839046-7110343)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 | |||
PMS2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5240 | 5342 | |
ACTB | No evidence available | No evidence available |
GRCh38 GRCh37 |
548 | 598 | |
AIMP2 | - | - |
GRCh38 GRCh37 |
73 | 214 | |
CCZ1 | - | - |
GRCh38 GRCh37 |
37 | 108 | |
CCZ1B | - | - | - |
GRCh38 GRCh37 |
28 | 65 |
CYTH3 | - | - |
GRCh38 GRCh37 |
13 | 69 | |
DAGLB | - | - |
GRCh38 GRCh37 |
82 | 135 | |
EIF2AK1 | - | - |
GRCh38 GRCh37 |
149 | 263 | |
FAM220A | - | - |
GRCh38 GRCh37 |
- | 63 | |
FBXL18 | - | - |
GRCh38 GRCh37 |
47 | 99 |
There are 22 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Jun 22, 2015 | RCV000511909.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024