AHI1 p.Cys751=
c.2253T>C · rs760462407 · VCV2908605
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.005%, amr)
Conditions
1
Joubert syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.095 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 2.3 | GERP -0.48, phastCons 1 |
| Overall | ||
| CADD | 7.469 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.005%
Admixed American · 3/60,004 alleles
Filtering AF
0.00133%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000668%
Overall
0.000206%
3/1,458,906 alleles · very rare
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
- AHI1
- Protein
- p.Cys751=
- Coding
- c.2253T>C
- MANE Select
- NM_001134831
- dbSNP
- rs760462407
- Type
- single nucleotide variant
- Location
- chr6:135433040 (GRCh38)
- Gene constraint
- LOEUF 1.069 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 62.03 · 1 PDB
- Residue 751
- a UniProt-annotated variant site (in jbts3)
Similar variants
- AHI1 p.Cys751fs Pathogenic/Likely pathogenic ★★ same residue
- AHI1 c.1152-1G>A Pathogenic/Likely pathogenic ★★ same condition
- AHI1 c.1152-2A>G Pathogenic ★★ same condition
- AHI1 c.1626+1G>A Pathogenic/Likely pathogenic ★★ same condition
- AHI1 c.1779+1G>T Pathogenic/Likely pathogenic ★★ same condition
- AHI1 c.2492+1G>A Pathogenic/Likely pathogenic ★★ same condition
- AHI1 c.2623+1G>A Pathogenic ★★ same condition
- AHI1 c.2623+1G>T Pathogenic ★★ same condition
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/ahi1-p-cys751 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown