ANKS6 p.Asp811=
c.2433C>T · rs777203569 · VCV748988
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0165%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.363 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>C here scores Δ0.40 · evaluated, not missing |
| Constraint at this position | ||
| Conservation | phyloP 4.3 | GERP -2.1, phastCons 1 |
| Overall | ||
| CADD | 8.41 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0165%
Middle Eastern · 1/6,062 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000274%
4/1,461,890 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0165% | 6,062 |
| South Asian | 0.0011% | 91,074 |
| European (non-Finnish) | 0.000169% | 590,012 |
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
- ANKS6
- Protein
- p.Asp811=
- Coding
- c.2433C>T
- MANE Select
- NM_173551
- dbSNP
- rs777203569
- Type
- single nucleotide variant
- Location
- chr9:98745637 (GRCh38)
- Gene constraint
- LOEUF 0.869 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 60.60 · 1 PDB
- Residue 811
- the sam domain; an α-helix
Similar variants
- ANKS6 c.1973-3C>G Pathogenic/Likely pathogenic ★★ same type
- ANKS6 p.Arg461Ter Pathogenic/Likely pathogenic ★★ same type
- ANKS6 c.907+6C>T Uncertain significance ★★ same type
- ANKS6 p.Ala215Thr Uncertain significance ★★ ⚠ same type
- ANKS6 p.Ala215Val Uncertain significance ★★ ⚠ same type
- ANKS6 p.Ala249Thr Uncertain significance ★★ ⚠ same type
- ANKS6 p.Ala261Thr Uncertain significance ★★ ⚠ same type
- ANKS6 p.Ala350Thr 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/anks6-p-asp811 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown