ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q24.3(chr8:144262042-146295771)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 | |||
ADCK5 | - | - | - |
GRCh38 GRCh38 GRCh37 |
42 | 116 |
ARHGAP39 | - | - |
GRCh38 GRCh37 |
95 | 166 | |
BOP1 | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 88 | |
C8orf33 | - | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 62 |
C8orf82 | - | - | - |
GRCh38 GRCh37 |
3 | 74 |
CCDC166 | - | - | - |
GRCh38 GRCh38 GRCh37 |
39 | 105 |
COMMD5 | - | - |
GRCh38 GRCh37 |
12 | 109 | |
CPSF1 | - | - |
GRCh38 GRCh38 GRCh37 |
129 | 203 | |
CYC1 | - | - |
GRCh38 GRCh37 |
120 | 189 | |
DGAT1 | - | - |
GRCh38 GRCh38 GRCh37 |
559 | 735 |
There are 61 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jul 19, 2019 | RCV001259034.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023