TPM1 p.Ala32=
c.96G>A · VCV4189483
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,603,390)
Conditions
1
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 0.04 | GERP -3, phastCons 0.56 |
| Overall | ||
| CADD | 12.29 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,603,390). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- TPM1
- Protein
- p.Ala32=
- Coding
- c.96G>A
- MANE Select
- NM_001018005
- Type
- single nucleotide variant
- Location
- chr15:63042925 (GRCh38)
- Gene constraint
- LOEUF 0.757 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 91.67 · 14 PDB
- Residue 32
- the 'disordered' region
Similar variants
- TPM1 p.Ala32Ser Uncertain significance ★★ ⚠ same residue
- TPM1 p.Ala32Val Uncertain significance ★★ ⚠ same residue
- TPM1 p.Ala183Val Uncertain significance ★★★ ⚠ same condition
- TPM1 p.Met281Thr Uncertain significance ★★★ ⚠ same condition
- TPM1 p.Lys266Arg Likely benign ★★★ ⚠ same condition
- TPM1 p.Thr282Ser Benign ★★★ same condition
- TPM1 p.Asp159Asn Pathogenic/Likely pathogenic ★★ same condition
- TPM1 p.Asp175Asn Pathogenic ★★ 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/tpm1-p-ala32 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown