ClinVar Genomic variation as it relates to human health
NM_000292.3(PHKA2):c.2146A>G (p.Met716Val)
Germline
Classification
(3)
Benign/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 | |||
PHKA2 | - | - |
GRCh38 GRCh37 |
419 | 649 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Dec 11, 2023 | RCV002952651.2 | |
Likely benign (1) |
|
May 1, 2022 | RCV003435841.3 | |
Likely benign (1) |
|
May 5, 2022 | RCV003906354.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024