ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q24.3(chr16:88985997-89962916)
Germline
Classification
(1)
Uncertain significance
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 | |||
ANKRD11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2454 | 2624 | |
CDH15 | No evidence available | No evidence available |
GRCh38 GRCh37 |
243 | 362 | |
ACSF3 | - | - |
GRCh38 GRCh37 |
878 | 1078 | |
CBFA2T3 | - | - |
GRCh38 GRCh37 |
54 | 158 | |
CDK10 | - | - |
GRCh38 GRCh37 |
85 | 166 | |
CHMP1A | - | - |
GRCh38 GRCh37 |
201 | 279 | |
CPNE7 | - | - |
GRCh38 GRCh37 |
72 | 145 | |
DPEP1 | - | - |
GRCh38 GRCh37 |
22 | 97 | |
FANCA | - | - |
GRCh38 GRCh37 |
4156 | 5309 | |
LOC101927817 | - | - | - |
GRCh38 GRCh37 |
- | 110 |
There are 10 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) |
|
Mar 1, 2022 | RCV002052564.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023