TPM1 p.Asp41=
c.123T>C · rs1029129685 · VCV525126
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 carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.31 | GERP 0.71, phastCons 0.36 |
| Overall | ||
| CADD | 11.32 | 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
- TPM1
- Protein
- p.Asp41=
- Coding
- c.123T>C
- MANE Select
- NM_001018005
- dbSNP
- rs1029129685
- Type
- single nucleotide variant
- Location
- chr15:63044035 (GRCh38)
- Gene constraint
- LOEUF 0.757 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 91.67 · 14 PDB
Similar variants
- TPM1 p.Asp41Asn Uncertain significance ★ ⚠ same residue
- TPM1 p.Ala183Val Uncertain significance ★★★ ⚠ same condition
- TPM1 p.Met281Thr Uncertain significance ★★★ ⚠ same condition
- TPM1 p.Thr108Ile Uncertain significance ★★★ ⚠ same condition
- TPM1 p.Lys266Arg Likely benign ★★★ ⚠ same condition
- TPM1 p.Thr282Ser Benign ★★★ same condition
- TPM1 p.Ala63Val Pathogenic/Likely pathogenic ★★ ⚠ same condition
- TPM1 p.Arg160His Pathogenic/Likely 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-asp41 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown