ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p14.1-13(chr3:69428068-70977848)x3
Germline
Classification
(1)
Likely benign
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 | |||
FOXP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
803 | 880 | |
MITF | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
663 | 688 | |
FRMD4B | - | - |
GRCh38 GRCh37 |
46 | 59 | |
LOC107988030 | - | - | - | GRCh38 | - | 14 |
LOC107988038 | - | - | - | GRCh38 | - | 6 |
LOC107988042 | - | - | - | GRCh38 | - | 9 |
LOC107988044 | - | - | - | GRCh38 | - | 5 |
LOC111589208 | - | - | - | GRCh38 | - | 5 |
LOC112935956 | - | - | - | GRCh38 | - | 6 |
LOC123002301 | - | - | - | GRCh38 | - | 7 |
There are 11 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 |
---|---|---|---|---|
Likely benign (1) |
|
Jul 18, 2014 | RCV000142264.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023