ClinVar Genomic variation as it relates to human health
NM_000102.4(CYP17A1):c.1193C>T (p.Ala398Val)
Germline
Classification
(2)
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 | |||
CYP17A1 | - | - |
GRCh38 GRCh37 |
424 | 553 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 28, 2023 | RCV003468627.1 | |
Likely pathogenic (1) |
|
Sep 8, 2023 | RCV003553985.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024