ClinVar Genomic variation as it relates to human health
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)
Germline
Classification
(4)
Conflicting classifications of pathogenicity
Pathogenic(2); Likely pathogenic(1); Uncertain significance(1)
Pathogenic(2); Likely pathogenic(1); Uncertain significance(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 | |||
PLA2G6 | - | - |
GRCh38 GRCh37 |
1054 | 1086 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 24, 2023 | RCV003041414.4 | |
Pathogenic (1) |
|
Apr 28, 2023 | RCV003050582.4 | |
Pathogenic (1) |
|
Jul 24, 2023 | RCV003324065.2 | |
Likely pathogenic (1) |
|
Oct 20, 2022 | RCV003223766.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024