MMP7 p.Arg77=
c.231C>T · rs17879417 · VCV776652
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.33%, afr)
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 -1.5 | GERP -3.5 |
| Overall | ||
| CADD | 1.17 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.33%
African / African-American · 2,498/75,016 alleles
Filtering AF
3.22%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.18%
Overall
0.174%
2,814/1,614,082 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.33% | 30 |
| Admixed American | 0.202% | 496 |
| Remaining individualsnot grpmax-eligible | 0.202% | 496 |
| Middle Eastern | 0.115% | 866 |
| South Asian | 0.00988% | 10,120 |
| European (non-Finnish) | 0.00441% | 22,692 |
| East Asian | 0.00223% | 44,882 |
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
- MMP7
- Protein
- p.Arg77=
- Coding
- c.231C>T
- MANE Select
- NM_002423
- dbSNP
- rs17879417
- Type
- single nucleotide variant
- Location
- chr11:102527861 (GRCh38)
- Gene constraint
- LOEUF 1.095 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.03 · 16 PDB
- Residue 77
- a UniProt-annotated variant site (in); an α-helix
Similar variants
- MMP7 p.Asn51His Benign ★★ same type
- MMP7 p.Ala152Asp Uncertain significance ★ ⚠ same type
- MMP7 p.Ala159Val Uncertain significance ★ ⚠ same type
- MMP7 p.Ala179Val Uncertain significance ★ ⚠ same type
- MMP7 p.Ala24Val Uncertain significance ★ ⚠ same type
- MMP7 p.Arg197Cys Uncertain significance ★ ⚠ same type
- MMP7 p.Asp119Gly Uncertain significance ★ ⚠ same type
- MMP7 p.Asp193Tyr Uncertain significance ★ ⚠ 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/mmp7-p-arg77 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown