TRRAP p.Arg3771=
c.11313G>T · rs138339697 · VCV2054150
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0633%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.048 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.3 | GERP -3.1, phastCons 0.96 |
| Overall | ||
| CADD | 3.137 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0633%
Admixed American · 38/60,000 alleles
Filtering AF
0.0481%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0467%
Overall
0.0422%
681/1,614,062 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0633% | 1,579 |
| European (non-Finnish) | 0.0515% | 1,941 |
| Remaining individualsnot grpmax-eligible | 0.0368% | 2,717 |
| African / African-American | 0.012% | 8,340 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00676% | 14,799 |
| Finnishnot grpmax-eligible | 0.00156% | 64,020 |
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
- TRRAP
- Protein
- p.Arg3771=
- Coding
- c.11313G>T
- MANE Select
- NM_001375524
- dbSNP
- rs138339697
- Type
- single nucleotide variant
- Location
- chr7:99011511 (GRCh38)
- Gene constraint
- LOEUF 0.115 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Residue 3771
- the pi3k/pi4k catalytic domain; an α-helix
Similar variants
- TRRAP p.Arg3771Trp Uncertain significance ★★ ⚠ same residue
- TRRAP p.Arg3771Gln Uncertain significance ★ same residue
- TRRAP p.Arg1035Gln Pathogenic/Likely pathogenic ★★ same type
- TRRAP p.Glu1104Gly Pathogenic/Likely pathogenic ★★ same type
- TRRAP p.Glu1106Lys Likely pathogenic ★★ same type
- TRRAP p.Met3318Val Pathogenic/Likely pathogenic ★★ same type
- TRRAP p.Val1030Ile Likely pathogenic ★★ same type
- TRRAP c.2622+3A>G 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/trrap-p-arg3771 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown