ClinVar Genomic variation as it relates to human health
NM_014423.4(AFF4):c.3432A>T (p.Leu1144=)
Germline
Classification
(2)
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 | |||
AFF4 | - | - |
GRCh38 GRCh37 |
461 | 482 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 8, 2023 | RCV002971954.2 | |
Likely benign (1) |
|
Sep 17, 2021 | RCV003926622.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024