ClinVar Genomic variation as it relates to human health
NM_000077.5(CDKN2A):c.278C>A (p.Thr93Lys)
Germline
Classification
(3)
Uncertain significance
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 | |||
CDKN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1260 | 1412 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 25, 2022 | RCV002441388.2 | |
Uncertain significance (1) |
|
Jul 26, 2023 | RCV003585275.2 | |
Uncertain significance (1) |
|
Feb 27, 2024 | RCV004571156.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024