ClinVar Genomic variation as it relates to human health
NM_004463.3(FGD1):c.2729G>A (p.Arg910Gln)
Germline
Classification
(3)
Benign
criteria provided, multiple submitters, no conflicts
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 | |||
FGD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
320 | 517 | |
TSR2 | - | - |
GRCh38 GRCh37 |
40 | 237 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jul 11, 2019 | RCV002431351.2 | |
Benign (1) |
|
Jan 8, 2024 | RCV003102150.2 | |
FGD1-related disorder
|
Benign (1) |
|
Jun 27, 2019 | RCV003933791.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024