FRG2C
Chr 3FSHD region gene 2 family member C
Based on the extremely limited information provided, I cannot write a clinically useful gene summary for FRG2C. The only available data indicates the protein is predicted to be nuclear-localized, but there is no information about its specific function, associated diseases, inheritance patterns, or clinical phenotypes. A meaningful clinical summary for child neurologists requires data on the protein's actual function and the neurological conditions caused by mutations in this gene.
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
30 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 8 | 0 | 8 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 0 | 6 | 0 | 6 |
Likely Benign | 0 | 0 | 2 | 1 | 3 |
Benign | 0 | 4 | 6 | 0 | 10 |
| Total | 0 | 4 | 24 | 1 | 29 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FRG2C · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools