ClinVar Genomic variation as it relates to human health
NM_000506.5(F2):c.1581C>T (p.Asn527=)
Germline
Classification
(3)
Likely 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 | |||
F2 | - | - |
GRCh38 GRCh37 |
347 | 369 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Mar 19, 2022 | RCV002405813.2 | |
Likely benign (1) |
|
Jan 31, 2024 | RCV003514575.1 | |
F2-related disorder
|
Likely benign (1) |
|
Jun 4, 2019 | RCV004555638.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024