ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q12.2(chr11:61409529-61821159)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 | |||
SDHAF2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | - | |
CPSF7 | - | - | - |
GRCh38 GRCh37 |
- | 24 |
DAGLA | - | - |
GRCh38 GRCh37 |
55 | - | |
FADS1 | - | - |
GRCh38 GRCh37 |
- | 18 | |
FADS2 | - | - |
GRCh38 GRCh37 |
7 | 21 | |
FEN1 | - | - |
GRCh38 GRCh37 |
10 | 21 | |
LOC101927495 | - | - | - | GRCh38 | - | 1 |
LOC105369329 | - | - | - | GRCh38 | - | 2 |
LOC111818968 | - | - | - | GRCh38 | - | 1 |
LOC121392920 | - | - | - | GRCh38 | - | 5 |
There are 22 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) |
|
Nov 30, 2010 | RCV000136058.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023