MMP14 p.Phe429=
c.1287C>T · rs17879806 · VCV778734
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Common
common (popmax 8.09%, afr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.4 | GERP 0.21, phastCons 1 |
| Overall | ||
| CADD | 7.45 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.09%
African / African-American · 6,062/74,958 alleles
Filtering AF
7.92%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 7.85%
Overall
0.444%
7,160/1,614,046 alleles · common
exomes 3,562/1,461,852 · genomes 3,598/152,194 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 8.09% | 12 |
| Admixed American | 0.763% | 131 |
| Remaining individualsnot grpmax-eligible | 0.635% | 157 |
| Middle Eastern | 0.445% | 225 |
| South Asian | 0.0198% | 5,060 |
| European (non-Finnish) | 0.0168% | 5,960 |
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
- MMP14
- Protein
- p.Phe429=
- Coding
- c.1287C>T
- MANE Select
- NM_004995
- dbSNP
- rs17879806
- Type
- single nucleotide variant
- Location
- chr14:22844766 (GRCh38)
- Gene constraint
- LOEUF 0.312 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 81.66 · 12 PDB
- Residue 429
- a β-strand
Similar variants
- MMP14 c.850+2C>T Uncertain significance ★★ same type
- MMP14 p.Ala165Asp Uncertain significance ★★ ⚠ same type
- MMP14 p.Ala366Val Uncertain significance ★★ ⚠ same type
- MMP14 p.Ala539Thr Uncertain significance ★★ ⚠ same type
- MMP14 p.Ala539Val Uncertain significance ★★ ⚠ same type
- MMP14 p.Arg168Cys Uncertain significance ★★ ⚠ same type
- MMP14 p.Arg343Trp Uncertain significance ★★ ⚠ same type
- MMP14 p.Arg362Gln 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/mmp14-p-phe429 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown