ANKRD65 p.Ala284=
c.852C>T · VCV3874016
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0166%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.032 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -7.4 | GERP -3.3 |
| Overall | ||
| CADD | 0.387 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0166%
Middle Eastern · 1/6,014 alleles
Filtering AF
0.00833%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00782%
Overall
0.00807%
125/1,549,074 alleles · ultra-rare
exomes 116/1,396,830 · genomes 9/152,244 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0166% | 6,014 |
| European (non-Finnish) | 0.00985% | 10,149 |
| Remaining individualsnot grpmax-eligible | 0.00833% | 12,012 |
| Admixed American | 0.00785% | 12,747 |
| East Asian | 0.00244% | 40,936 |
| African / African-American | 0.00137% | 73,054 |
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
- ANKRD65
- Protein
- p.Ala284=
- Coding
- c.852C>T
- MANE Select
- NM_001145210
- Type
- single nucleotide variant
- Location
- chr1:1419448 (GRCh38)
- Gene constraint
- LOEUF 1.968 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.07
Similar variants
- ANKRD65 p.Ala106Val Uncertain significance ★ ⚠ same type
- ANKRD65 p.Ala115Thr Uncertain significance ★ ⚠ same type
- ANKRD65 p.Ala147Asp Uncertain significance ★ ⚠ same type
- ANKRD65 p.Ala162Pro Uncertain significance ★ ⚠ same type
- ANKRD65 p.Ala168Thr Uncertain significance ★ ⚠ same type
- ANKRD65 p.Ala170Val Uncertain significance ★ ⚠ same type
- ANKRD65 p.Ala180Val Uncertain significance ★ ⚠ same type
- ANKRD65 p.Ala198Ser 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/ankrd65-p-ala284 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown