ClinVar Genomic variation as it relates to human health
NM_000492.4(CFTR):c.1541A>G (p.Glu514Gly)
Germline
Classification
(2)
Uncertain significance
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 | |||
CFTR | - | - |
GRCh38 GRCh37 |
3712 | 5035 | |
CFTR-AS1 | - | - | - | GRCh38 | - | 491 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 7, 2022 | RCV002403179.2 | |
CFTR-related disorder
|
Uncertain significance (1) |
|
Nov 17, 2022 | RCV004534083.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024