ClinVar Genomic variation as it relates to human health
NM_001256317.3(TMPRSS3):c.917C>T (p.Ala306Val)
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 | |||
TMPRSS3 | - | - |
GRCh38 GRCh37 |
570 | 672 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Feb 28, 2023 | RCV003155587.2 | |
Likely pathogenic (1) |
|
Dec 13, 2022 | RCV003708734.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024