ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q31.2(chr5:138179894-139039890)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 | |||
CTNNA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2866 | 2925 | |
CDC23 | - | - |
GRCh38 GRCh37 |
17 | 37 | |
CDC25C | - | - |
GRCh38 GRCh37 |
31 | 50 | |
CTNNA1-AS1 | - | - | - | GRCh38 | - | 10 |
EGR1 | - | - |
GRCh38 GRCh37 |
11 | 33 | |
ETF1 | - | - |
GRCh38 GRCh37 |
1 | 19 | |
FAM53C | - | - |
GRCh38 GRCh37 |
25 | 43 | |
GFRA3 | - | - |
GRCh38 GRCh37 |
19 | 41 | |
HSPA9 | - | - |
GRCh38 GRCh37 |
61 | 80 | |
KDM3B | - | - |
GRCh38 GRCh37 |
232 | 267 |
There are 41 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
|
Uncertain significance (1) |
|
Feb 18, 2011 | RCV000135679.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024