ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q31.1-31.2(chr1:189460972-190945450)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 | |||
BRINP3 | - | - |
GRCh38 GRCh37 |
53 | 79 | |
BRINP3-DT | - | - | - | GRCh38 | - | 8 |
LINC01720 | - | - | - | GRCh38 | - | 10 |
LOC126805960 | - | - | - | GRCh38 | - | 10 |
LOC129388676 | - | - | - | GRCh38 | - | 12 |
LOC129388677 | - | - | - | GRCh38 | - | 12 |
LOC129388678 | - | - | - | GRCh38 | - | 12 |
LOC129388679 | - | - | - | GRCh38 | - | 12 |
LOC129388680 | - | - | - | GRCh38 | - | 12 |
LOC129388681 | - | - | - | GRCh38 | - | 12 |
There are 12 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Aug 5, 2011 | RCV000142559.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024