TCERG1 p.Ala207=
c.621T>C · rs183780634 · VCV2655879
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0257%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -20 | GERP -4.1 |
| Overall | ||
| CADD | 0.003 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0257%
South Asian · 23/89,538 alleles
Filtering AF
0.0175%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0148%
Overall
0.00548%
86/1,568,124 alleles · ultra-rare
exomes 72/1,432,662 · genomes 14/135,462 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0257% | 3,893 |
| East Asian | 0.0114% | 8,790 |
| African / African-American | 0.00868% | 11,517 |
| Admixed American | 0.00518% | 19,319 |
| European (non-Finnish) | 0.00391% | 25,573 |
| Finnishnot grpmax-eligible | 0.00334% | 29,979 |
| Remaining individualsnot grpmax-eligible | 0.00328% | 30,509 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- TCERG1
- Protein
- p.Ala207=
- Coding
- c.621T>C
- MANE Select
- NM_001382548
- dbSNP
- rs183780634
- Type
- single nucleotide variant
- Location
- chr5:146459066 (GRCh38)
- Gene constraint
- LOEUF 0.323 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 69.35 · 29 PDB
Similar variants
- TCERG1 p.Ala189Val Uncertain significance ★ ⚠ same type
- TCERG1 p.Ala191Ser Uncertain significance ★ ⚠ same type
- TCERG1 p.Ala195Val Uncertain significance ★ ⚠ same type
- TCERG1 p.Ala205Val Uncertain significance ★ ⚠ same type
- TCERG1 p.Ala245Val Uncertain significance ★ ⚠ same type
- TCERG1 p.Ala253Val Uncertain significance ★ ⚠ same type
- TCERG1 p.Ala424Ser Uncertain significance ★ ⚠ same type
- TCERG1 p.Ala429Val Uncertain significance ★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/tcerg1-p-ala207 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown