ClinVar Genomic variation as it relates to human health
NM_003331.5(TYK2):c.460G>T (p.Glu154Ter)
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
TYK2 | - | - |
GRCh38 GRCh37 |
920 | 938 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 31, 2018 | RCV000210466.3 |
Citations for germline classification of this variant
HelpText-mined citations for rs879253731 ...
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 Apr 25, 2022
The paper by Kreins et al., 2015 (PubMed 26304966) reports this allele as c.462G>T, with an effect of introducing a stop codon. NM_003331.4:c.462G>T corresponds to p.Glu154Asp; NM_003331.4:c.460G>T corresponds to E154*. Given that the paper reported the absence of protein, we have chosen to represent this as NM_003331.4:c.460G>T.