ANKRD1 p.Arg100=
c.298A>C · rs2492961063 · VCV1804221
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 5.1 | GERP 2.3, phastCons 1 |
| Overall | ||
| CADD | 12.77 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ANKRD1
- Protein
- p.Arg100=
- Coding
- c.298A>C
- MANE Select
- NM_014391
- dbSNP
- rs2492961063
- Type
- single nucleotide variant
- Location
- chr10:90919178 (GRCh38)
- Gene constraint
- LOEUF 1.038 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.64
Similar variants
- ANKRD1 p.Arg100Ser Uncertain significance ★★ ⚠ same residue
- ANKRD1 p.Arg100Lys Conflicting classifications of pathogenicity ★ ⚠ same residue
- ANKRD1 c.207+1G>T Uncertain significance ★★ same type
- ANKRD1 c.27+1G>T Uncertain significance ★★ same type
- ANKRD1 c.28-3T>C Uncertain significance ★★ same type
- ANKRD1 c.651+4T>A Uncertain significance ★★ same type
- ANKRD1 c.651+6C>T Uncertain significance ★★ same type
- ANKRD1 c.652-2A>T 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/ankrd1-p-arg100 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown