MYBPC3 p.Val712=
c.2136G>A · rs876657511 · VCV227565
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00017%, nfe)
Conditions
2
cardiomyopathy
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 1.4 | GERP -0.14, phastCons 1 |
| Overall | ||
| CADD | 9.088 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00017%
European (non-Finnish) · 2/1,179,888 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000124%
2/1,614,062 alleles · very rare
exomes 2/1,461,688 · genomes 0/152,374 · joint denominator
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
- MYBPC3
- Protein
- p.Val712=
- Coding
- c.2136G>A
- MANE Select
- NM_000256
- dbSNP
- rs876657511
- Type
- single nucleotide variant
- Location
- chr11:47339336 (GRCh38)
- Gene constraint
- LOEUF 0.915 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 79.43 · 17 PDB
- Residue 712
- the ig-like c2-type 5 domain
Similar variants
- MYBPC3 p.Val712Leu Uncertain significance ★★ ⚠ same residue
- MYBPC3 p.Val712Ala Likely benign ★ 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-val712 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown