ClinVar Genomic variation as it relates to human health
NM_014423.4(AFF4):c.529C>T (p.Arg177Cys)
Germline
Classification
(4)
Conflicting classifications of pathogenicity
Uncertain significance(3); Likely benign(1)
Uncertain significance(3); Likely benign(1)
criteria provided, conflicting classifications
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 |
469 | 486 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 24, 2023 | RCV002672258.2 | |
Uncertain significance (1) |
|
May 10, 2021 | RCV002700187.2 | |
Likely benign (1) |
|
Apr 1, 2023 | RCV003434501.5 | |
AFF4-related disorder
|
Uncertain significance (1) |
|
Dec 31, 2023 | RCV003926431.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024