MTFMT p.Glu76del
c.219AGA[2] · rs756032517 · VCV2413727
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00133%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.089 | GERP -0.9 |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00133%
African / African-American · 1/75,016 alleles
Overall
0.000186%
3/1,613,700 alleles · very rare
exomes 3/1,461,446 · genomes 0/152,254 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00133% | 75,016 |
| South Asian | 0.0011% | 91,028 |
| European (non-Finnish) | 8.48e-05% | 1,179,738 |
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
- MTFMT
- Protein
- p.Glu76del
- Coding
- c.219AGA[2]
- MANE Select
- NM_139242
- dbSNP
- rs756032517
- Type
- Microsatellite
- Location
- chr15:65027023 (GRCh38)
- Gene constraint
- LOEUF 1.304 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 86.08
Similar variants
- MTFMT p.Glu76Gln Conflicting classifications of pathogenicity ★ ⚠ same residue
- MTFMT p.Glu76Gly Uncertain significance ★ ⚠ same residue
- MTFMT p.Glu76Lys Uncertain significance ★ ⚠ same residue
- MTFMT p.Lys377del Uncertain significance ★★ same type
- MTFMT c.646-19_646-18del Likely benign ★★ same type
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/mtfmt-p-glu76del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown