ClinVar Genomic variation as it relates to human health
NM_000439.5(PCSK1):c.1974G>A (p.Leu658=)
Germline
Classification
(1)
Likely benign
criteria provided, single submitter
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 | |||
CAST | - | - |
GRCh38 GRCh37 |
145 | 534 | |
LOC101929710 | - | - | - | GRCh38 | - | 318 |
PCSK1 | - | - |
GRCh38 GRCh37 |
2 | 337 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 7, 2023 | RCV003684706.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 25, 2024