HES7 p.Ser85=
c.255C>T · rs775714752 · VCV1611095
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.028%, amr)
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 8 | phastCons 1 |
| Overall | ||
| CADD | 14.37 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.028%
Admixed American · 14/50,062 alleles
Filtering AF
0.0169%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0135%
Overall
0.00315%
48/1,525,260 alleles · ultra-rare
exomes 40/1,373,122 · genomes 8/152,138 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.028% | 3,576 |
| Middle Eastern | 0.0193% | 5,168 |
| South Asian | 0.00718% | 13,920 |
| Remaining individualsnot grpmax-eligible | 0.00674% | 14,843 |
| European (non-Finnish) | 0.00192% | 52,018 |
| African / African-American | 0.00142% | 70,588 |
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.Ser85=
- Coding
- c.255C>T
- MANE Select
- NM_001165967
- dbSNP
- rs775714752
- Type
- single nucleotide variant
- Location
- chr17:8122009 (GRCh38)
- Gene constraint
- LOEUF 1.319 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 74.31
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-ser85 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown