TNC p.Arg791=
c.2373G>A · rs181668470 · VCV774436
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.25%, sas)
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 -1.5 | GERP -5.5 |
| Overall | ||
| CADD | 6.383 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.25%
South Asian · 1,138/90,994 alleles
Filtering AF
1.19%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.17%
Overall
0.101%
1,634/1,613,652 alleles · low-frequency
exomes 1,500/1,461,402 · genomes 134/152,250 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 1.25% | 80 |
| East Asian | 0.519% | 193 |
| Ashkenazi Jewishnot grpmax-eligible | 0.25% | 400 |
| Remaining individualsnot grpmax-eligible | 0.154% | 651 |
| Middle Eastern | 0.116% | 859 |
| European (non-Finnish) | 0.00687% | 14,567 |
| African / African-American | 0.004% | 24,985 |
| Admixed American | 0.00334% | 29,960 |
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
- TNC
- Protein
- p.Arg791=
- Coding
- c.2373G>A
- MANE Select
- NM_002160
- dbSNP
- rs181668470
- Type
- single nucleotide variant
- Location
- chr9:115081803 (GRCh38)
- Gene constraint
- LOEUF 0.608 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 75.48 · 21 PDB
- Residue 791
- the fibronectin type-iii 2 domain
Similar variants
- TNC p.Arg791Gln Uncertain significance ★ ⚠ same residue
- TNC p.Arg1127Trp Uncertain significance ★★ ⚠ same type
- TNC p.Arg608Cys Uncertain significance ★★ ⚠ same type
- TNC p.Arg669His Uncertain significance ★★ ⚠ same type
- TNC p.Arg747Trp Uncertain significance ★★ ⚠ same type
- TNC p.Asn507Lys Uncertain significance ★★ ⚠ same type
- TNC p.Asp2059Glu Uncertain significance ★★ ⚠ same type
- TNC p.Asp831Asn 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/tnc-p-arg791 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown