MYBPC3 p.Val166=
c.498G>A · rs2142868026 · VCV1548610
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
hypertrophic cardiomyopathy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.64 | donor gain · deltas |
|---|---|---|
| Pangolin | Δ0.42 | gain · loss 0.11 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 4.8 | GERP -0.015, phastCons 1 |
| Overall | ||
| CADD | 19.28 | 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
- MYBPC3
- Protein
- p.Val166=
- Coding
- c.498G>A
- MANE Select
- NM_000256
- dbSNP
- rs2142868026
- Type
- single nucleotide variant
- Location
- chr11:47350021 (GRCh38)
- Gene constraint
- LOEUF 0.915 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 79.43 · 17 PDB
- Residue 166
- the ig-like c2-type 1 domain; a β-strand
Similar variants
- MYBPC3 p.Val166Gly Uncertain significance ★★ ⚠ same residue
- MYBPC3 p.Val166Met Uncertain significance ★★ same residue
- MYBPC3 p.Arg495Gln Likely pathogenic ★★★ ⚠ same condition
- MYBPC3 p.Arg495Gly Likely pathogenic ★★★ ⚠ same condition
- MYBPC3 p.Arg495Trp Likely pathogenic ★★★ ⚠ same condition
- MYBPC3 p.Arg502Gln Pathogenic ★★★ ⚠ same condition
- MYBPC3 c.26-2A>G Uncertain significance ★★★ same condition
- MYBPC3 p.Arg1271Ter Uncertain significance ★★★ same condition
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/mybpc3-p-val166 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown