ClinVar Genomic variation as it relates to human health
NM_005557.4(KRT16):c.415G>C (p.Glu139Gln)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); 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 | |||
KRT16 | - | - |
GRCh38 GRCh37 |
124 | 131 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
KRT16-related disorder
|
Likely benign (1) |
|
Jul 11, 2019 | RCV003961775.1 |
Uncertain significance (1) |
|
Oct 20, 2021 | RCV004369855.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024