ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q31.2-31.3(chr5:139447779-140047037)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
PURA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
480 | 538 | |
ANKHD1 | - | - |
GRCh38 GRCh37 |
- | 29 | |
ANKHD1-EIF4EBP3 | - | - | - |
GRCh38 GRCh37 |
5 | 46 |
APBB3 | - | - |
GRCh38 GRCh37 |
38 | 56 | |
CD14 | - | - |
GRCh38 GRCh37 |
- | 42 | |
CYSTM1 | - | - | - |
GRCh38 GRCh37 |
7 | 24 |
EIF4EBP3 | - | - |
GRCh38 GRCh37 |
- | 29 | |
HBEGF | - | - |
GRCh38 GRCh37 |
10 | 27 | |
IGIP | - | - | - |
GRCh38 GRCh37 |
2 | 19 |
IK | - | - |
GRCh38 GRCh37 |
14 | 47 |
There are 7 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 24, 2018 | RCV000846756.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022