ClinVar Genomic variation as it relates to human health
NM_003560.4(PLA2G6):c.1765_1768del (p.Ser589fs)
Germline
Classification
(2)
Pathogenic/Likely 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 | |||
PLA2G6 | - | - |
GRCh38 GRCh37 |
1059 | 1091 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jan 24, 2023 | RCV003041415.3 | |
Pathogenic (1) |
|
Nov 5, 2023 | RCV003064656.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024