HES7 p.Pro206=
c.618G>A · rs1234263226 · VCV752251
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00537%, nfe)
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 0.086 | phastCons 0.78 |
| Overall | ||
| CADD | 10.98 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00537%
European (non-Finnish) · 56/1,042,456 alleles
Filtering AF
0.00424%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00381%
Overall
0.00439%
58/1,319,854 alleles · very rare
exomes 58/1,167,762 · genomes 0/152,092 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00537% | 18,615 |
| South Asian | 0.00222% | 44,952 |
| African / African-American | 0.00154% | 64,866 |
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
- HES7
- Protein
- p.Pro206=
- Coding
- c.618G>A
- MANE Select
- NM_001165967
- dbSNP
- rs1234263226
- Type
- single nucleotide variant
- Location
- chr17:8121646 (GRCh38)
- Gene constraint
- LOEUF 1.319 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.31
- Residue 206
- the 'disordered' region
Similar variants
- HES7 p.Ala109Glu Uncertain significance ★★ ⚠ same type
- HES7 p.Ala126Gly Uncertain significance ★★ ⚠ same type
- HES7 p.Arg132Cys Uncertain significance ★★ ⚠ same type
- HES7 p.Arg227Ser Uncertain significance ★★ ⚠ same type
- HES7 p.Arg30Ser Uncertain significance ★★ ⚠ same type
- HES7 p.Asp142Tyr Uncertain significance ★★ ⚠ same type
- HES7 p.Ile58Arg Uncertain significance ★★ ⚠ same type
- HES7 p.Leu19Val 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/hes7-p-pro206 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown