ANKRD61 p.Thr188=
c.564C>T · VCV4084411
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00119%, sas)
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 -1.2 | |
| Overall | ||
| CADD | 6.622 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00119%
South Asian · 1/84,052 alleles
Overall
7.15e-05%
1/1,398,418 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
- ANKRD61
- Protein
- p.Thr188=
- Coding
- c.564C>T
- MANE Select
- NM_001271700
- Type
- single nucleotide variant
- Location
- chr7:6035693 (GRCh38)
- Gene constraint
- LOEUF 1.498 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.88
Similar variants
- ANKRD61 p.Asn228= Likely benign ★ same type
- ANKRD61 p.His267= Likely benign ★ same type
- EIF2AK1 c.1333-2574C>A 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/ankrd61-p-thr188 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown