ClinVar Genomic variation as it relates to human health
NM_003221.4(TFAP2B):c.562A>G (p.Ser188Gly)
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 | |||
TFAP2B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
133 | 147 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 15, 2022 | RCV002979603.1 | |
Likely benign (1) |
|
Jun 4, 2022 | RCV002993954.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024