ClinVar Genomic variation as it relates to human health
NM_004629.2(FANCG):c.1474G>T (p.Glu492Ter)
Germline
Classification
(2)
Pathogenic
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 | |||
FANCG | - | - |
GRCh38 GRCh37 |
924 | 1006 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 23, 2022 | RCV002982995.2 | |
Pathogenic (1) |
|
Jul 19, 2023 | RCV003465884.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024