TAF2 p.Ser697=
c.2091A>C · rs61737160 · VCV776381
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.73%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -11 | GERP -0.47 |
| Overall | ||
| CADD | 1.211 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.73%
African / African-American · 2,047/75,038 alleles
Filtering AF
2.63%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.59%
Overall
0.149%
2,411/1,614,116 alleles · low-frequency
exomes 1,263/1,461,782 · genomes 1,148/152,334 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.73% | 37 |
| Middle Eastern | 0.28% | 357 |
| Remaining individualsnot grpmax-eligible | 0.245% | 409 |
| Admixed American | 0.188% | 531 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0372% | 2,691 |
| European (non-Finnish) | 0.00551% | 18,154 |
| South Asian | 0.00549% | 18,217 |
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
- TAF2
- Protein
- p.Ser697=
- Coding
- c.2091A>C
- MANE Select
- NM_003184
- dbSNP
- rs61737160
- Type
- single nucleotide variant
- Location
- chr8:119783402 (GRCh38)
- Gene constraint
- LOEUF 0.551 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 74.09 · 29 PDB
- Residue 697
- an α-helix
Similar variants
- TAF2 p.Ala244Val Uncertain significance ★★ ⚠ same type
- TAF2 p.Arg1077Trp Uncertain significance ★★ ⚠ same type
- TAF2 p.Arg1082Gln Uncertain significance ★★ ⚠ same type
- TAF2 p.Arg1082Leu Uncertain significance ★★ ⚠ same type
- TAF2 p.Arg1193Cys Uncertain significance ★★ ⚠ same type
- TAF2 p.Arg1193His Uncertain significance ★★ ⚠ same type
- TAF2 p.Arg795His Uncertain significance ★★ ⚠ same type
- TAF2 p.Asn787Thr 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/taf2-p-ser697 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown