ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3
Germline
Classification
(1)
Benign/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 | |||
GDF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
261 | 378 | |
AGAP10 | - | - | - | GRCh37 | - | 103 |
AGAP9 | - | - | - |
GRCh38 GRCh37 |
- | 111 |
ANXA8 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 115 | |
FAM245B | - | - | - | GRCh38 | - | 61 |
FAM25G | - | - | - |
GRCh38 GRCh37 |
- | 108 |
GDF10 | - | - |
GRCh38 GRCh37 |
45 | 160 | |
GPRIN2 | - | - |
GRCh38 GRCh38 GRCh37 |
25 | 139 | |
LINC02637 | - | - | - | GRCh38 | - | 66 |
LINC03029 | - | - | - | GRCh38 | - | 61 |
There are 18 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 |
---|---|---|---|---|
See cases
|
Benign/Likely benign (1) |
|
Sep 21, 2012 | RCV000134840.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024
When NCBI calculated the location of this variant on an assembly more recent than the one on which the variant was originally described, there were multiple placements. This suggests the variant falls within a region of the genome that changed significantly between assemblies. We present the highest-scoring placement here; however the variant's location should be interpreted with caution.