FUT8 p.Ser7=
c.21C>T · rs142688407 · VCV2705477
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0217%, amr)
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 0.85 | GERP 0.88, phastCons 1 |
| Overall | ||
| CADD | 14.18 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0217%
Admixed American · 13/59,938 alleles
Filtering AF
0.0128%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0101%
Overall
0.00248%
40/1,613,340 alleles · ultra-rare
exomes 30/1,461,214 · genomes 10/152,126 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0217% | 4,611 |
| Middle Eastern | 0.0165% | 6,062 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,816 |
| African / African-American | 0.00267% | 37,435 |
| European (non-Finnish) | 0.00178% | 56,168 |
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
- FUT8
- Protein
- p.Ser7=
- Coding
- c.21C>T
- MANE Select
- NM_001371533
- dbSNP
- rs142688407
- Type
- single nucleotide variant
- Location
- chr14:65561584 (GRCh38)
- Gene constraint
- LOEUF 0.667 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.03 · 14 PDB
Similar variants
- FUT8 p.Ser7Phe Uncertain significance ★★ ⚠ same residue
- FUT8 p.Arg239Ter Pathogenic ★★ same type
- FUT8 p.Ala518Thr Uncertain significance ★★ ⚠ same type
- FUT8 p.Arg395Cys Uncertain significance ★★ ⚠ same type
- FUT8 p.Arg559Ter Uncertain significance ★★ same type
- FUT8 p.Gly107Asp Uncertain significance ★★ ⚠ same type
- FUT8 p.Gly437Val Uncertain significance ★★ ⚠ same type
- FUT8 p.Ile163Val 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/fut8-p-ser7 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown