TAF2 p.Ser248=
c.744C>G · rs370215970 · VCV1559181
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0946%, 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 1.2 | GERP -3.5, phastCons 1 |
| Overall | ||
| CADD | 7.529 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0946%
African / African-American · 71/75,040 alleles
Filtering AF
0.0769%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0704%
Overall
0.00502%
81/1,614,160 alleles · ultra-rare
exomes 43/1,461,884 · genomes 38/152,276 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0946% | 1,057 |
| Remaining individualsnot grpmax-eligible | 0.0112% | 8,930 |
| Admixed American | 0.005% | 20,006 |
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.Ser248=
- Coding
- c.744C>G
- MANE Select
- NM_003184
- dbSNP
- rs370215970
- Type
- single nucleotide variant
- Location
- chr8:119801842 (GRCh38)
- Gene constraint
- LOEUF 0.551 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 74.09 · 29 PDB
Similar variants
- TAF2 p.Ser248Ala Uncertain significance ★ ⚠ same residue
- 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
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-ser248 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown