ClinVar Genomic variation as it relates to human health
NM_006031.6(PCNT):c.5871T>G (p.Ala1957=)
Germline
Classification
(2)
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 | |||
PCNT | - | - |
GRCh38 GRCh37 |
3282 | 3449 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 24, 2023 | RCV003842455.1 | |
PCNT-related disorder
|
Likely benign (1) |
|
Jul 29, 2022 | RCV003893500.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024