Is MYBPC3 p.Pro110= (c.330T>G) pathogenic?

MYBPC3 p.Pro110= (c.330T>G) is classified Likely benign in MYBPC3 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-09-05). Absent from gnomAD v4.1; Associated with cardiomyopathy.

What condition is associated with MYBPC3 p.Pro110= (c.330T>G)?

MYBPC3 p.Pro110= (c.330T>G) is associated with cardiomyopathy (ClinVar).

How common is MYBPC3 p.Pro110= (c.330T>G) in the general population?

MYBPC3 p.Pro110= (c.330T>G) is absent from gnomAD v4.1 (gnomAD).

MYBPC3 p.Pro110=

c.330T>G · rs2142868760 · VCV1329396

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

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 0.08	GERP 0.88
Overall
CADD	7.292	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.Pro110=
Coding: c.330T>G
MANE Select: NM_000256
dbSNP: rs2142868760
Type: single nucleotide variant
Location: chr11:47350578 (GRCh38)
Gene constraint: LOEUF 0.915 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 79.43 · 17 PDB
Residue 110: the 'disordered' region

Full MYBPC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

cardiomyopathy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

MYBPC3 p.Pro110Thr Uncertain significance ★ ⚠ same residue
MYBPC3 p.Pro110Leu 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-pro110 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown