ANKRD27 p.Asp707=
c.2121C>T · rs146025565 · VCV2649683
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0164%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.9 | GERP -3.1 |
| Overall | ||
| CADD | 0.205 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0164%
Middle Eastern · 1/6,084 alleles
Filtering AF
0.00656%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00608%
Overall
0.00595%
96/1,614,060 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0164% | 6,084 |
| European (non-Finnish) | 0.00788% | 12,688 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,486 |
| African / African-American | 0.00133% | 74,928 |
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
- ANKRD27
- Protein
- p.Asp707=
- Coding
- c.2121C>T
- MANE Select
- NM_032139
- dbSNP
- rs146025565
- Type
- single nucleotide variant
- Location
- chr19:32615712 (GRCh38)
- Gene constraint
- LOEUF 0.965 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 68.33 · 5 PDB
- Residue 707
- the 'interaction with rab32' region; the 'required for interaction with vamp7' region; the 'sufficient for interaction with vps29' region
Similar variants
- ANKRD27 p.Asp707Glu Uncertain significance ★ ⚠ same residue
- ANKRD27 p.Ala199Ser Uncertain significance ★ ⚠ same type
- ANKRD27 p.Ala2Val Uncertain significance ★ ⚠ same type
- ANKRD27 p.Ala344Ser Uncertain significance ★ ⚠ same type
- ANKRD27 p.Ala344Thr Uncertain significance ★ ⚠ same type
- ANKRD27 p.Ala406Pro Uncertain significance ★ ⚠ same type
- ANKRD27 p.Ala476Thr Uncertain significance ★ ⚠ same type
- ANKRD27 p.Ala522Ser 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/ankrd27-p-asp707 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown