ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4
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 | |||
ANKRD11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2420 | 2584 | |
FOXC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
138 | 237 | |
FOXF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
164 | 215 | |
CDH15 | No evidence available | No evidence available |
GRCh38 GRCh37 |
235 | 349 | |
ACSF3 | - | - |
GRCh38 GRCh37 |
858 | 1052 | |
APRT | - | - |
GRCh38 GRCh37 |
130 | 243 | |
BANP | - | - |
GRCh38 GRCh37 |
28 | 93 | |
C16orf74 | - | - | - |
GRCh38 GRCh37 |
4 | 59 |
C16orf95 | - | - | - |
GRCh38 GRCh37 |
1 | 63 |
CA5A | - | - |
GRCh38 GRCh37 |
178 | 241 |
There are 49 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) |
|
Jul 14, 2015 | RCV000511606.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024