FCGR2A p.Ser70=
c.210C>T · rs148868087 · VCV714935
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Rare
rare (popmax 0.313%, nfe)
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 -2 | GERP -1.4 |
| Overall | ||
| CADD | 7.747 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.313%
European (non-Finnish) · 3,689/1,180,026 alleles
Filtering AF
0.304%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.301%
Overall
0.249%
4,025/1,614,198 alleles · rare
exomes 3,717/1,461,884 · genomes 308/152,314 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.313% | 320 |
| Finnishnot grpmax-eligible | 0.247% | 405 |
| Remaining individualsnot grpmax-eligible | 0.171% | 584 |
| Middle Eastern | 0.066% | 1,516 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0473% | 2,115 |
| African / African-American | 0.0426% | 2,345 |
| Admixed American | 0.0233% | 4,288 |
| South Asian | 0.00768% | 13,013 |
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
- FCGR2A
- Protein
- p.Ser70=
- Coding
- c.210C>T
- MANE Select
- NM_001136219
- dbSNP
- rs148868087
- Type
- single nucleotide variant
- Location
- chr1:161506437 (GRCh38)
- Gene constraint
- LOEUF 0.922 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.04 · 10 PDB
- Residue 70
- a β-strand; the ig-like c2-type 1 domain
Similar variants
- FCGR2A c.780+1G>A Uncertain significance ★★ same type
- FCGR2A p.Ser315Gly Uncertain significance ★★ ⚠ same type
- FCGR2A c.365-11G>A Benign ★★ same type
- FCGR2A p.Gln63Arg Benign ★★ same type
- FCGR2A p.Gln63Ter Benign ★★ same type
- FCGR2A p.His167Arg Benign ★★ same type
- FCGR2A p.Pro215= Benign ★★ same type
- FCGR2A p.Pro293= 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/fcgr2a-p-ser70 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown