HTT p.Pro73_Pro76del
c.201GCCCCCGCCGCC[1] · VCV4820938
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.679%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Overall | ||
| CADD | 14.65 | PHRED · no single calibrated threshold — expert panels disagree |
| Region caveats | ||
| Repeat context | tandem | (CGC)n simple repeat · ambiguous alignment · confidence, not pathogenicity |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.679%
East Asian · 212/31,218 alleles
Filtering AF
0.604%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.575%
Overall
0.103%
1,290/1,258,016 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.679% | 147 |
| Ashkenazi Jewishnot grpmax-eligible | 0.655% | 153 |
| African / African-American | 0.425% | 235 |
| Remaining individualsnot grpmax-eligible | 0.304% | 329 |
| Middle Eastern | 0.213% | 470 |
| South Asian | 0.15% | 668 |
| Admixed American | 0.0673% | 1,485 |
| European (non-Finnish) | 0.0477% | 2,095 |
| Finnishnot grpmax-eligible | 0.0031% | 32,208 |
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
- HTT
- Protein
- p.Pro73_Pro76del
- Coding
- c.201GCCCCCGCCGCC[1]
- MANE Select
- NM_001045 · reported on NM_001388492
- Type
- Microsatellite
- Location
- chr4:3075023 (GRCh38)
- Structure
- AlphaFold pLDDT 85.38 · 30 PDB
Similar variants
- HTT p.Gln31_Gln38dup Benign/Likely benign ★★ same type
- HTT p.Gln32_Gln38dup Benign/Likely benign ★★ same type
- HTT p.Gln33_Gln38dup Benign/Likely benign ★★ same type
- HTT p.Gln34_Gln38del Likely benign ★★ same type
- HTT p.Gln36_Gln38del Benign/Likely benign ★★ same type
- HTT p.Gln38_Pro39insGln Benign ★★ same type
- HTT p.Gln38_Pro39insGlnGlnGlnGlnGln Likely benign ★★ same type
- HTT p.Gln38_Pro39insGlnGlnGlnGlnGlnGlnGlnGlnGln Likely benign ★★ 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/htt-p-pro73-pro76del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown