ClinVar Genomic variation as it relates to human health
NM_021830.5(TWNK):c.737A>G (p.Asn246Ser)
Germline
Classification
(5)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(3); Likely benign(1)
Likely pathogenic(1); Uncertain significance(3); Likely benign(1)
criteria provided, conflicting classifications
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 | |||
TWNK | - | - |
GRCh38 GRCh37 |
524 | 541 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jul 17, 2012 | RCV000198396.2 | |
Uncertain significance (3) |
|
Dec 1, 2023 | RCV000727648.21 | |
Likely pathogenic (1) |
|
Jul 17, 2019 | RCV000855770.3 |
Citations for germline classification of this variant
HelpText-mined citations for rs754081544 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Aug 04, 2024