FCGR3B

Chr 1

Fc gamma receptor IIIb

Also known as: CD16, CD16-I, CD16b, FCG3, FCGR3, FCRIIIb, HNA-1

The protein encoded by this gene is a low affinity receptor for the Fc region of gamma immunoglobulins (IgG). The encoded protein acts as a monomer and can bind either monomeric or aggregated IgG. This gene may function to capture immune complexes in the peripheral circulation. Several transcript variants encoding different isoforms have been found for this gene. A highly-similar gene encoding a related protein is also found on chromosome 1. [provided by RefSeq, Aug 2012]

OMIMResearchGenerating clinical summary…
MultiplemechanismLOEUF 1.65
Clinical SummaryFCGR3B
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
1 unique Pathogenic / Likely Pathogenic· 35 VUS of 57 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.65LOEUF
pLI 0.000
Z-score 0.01
OE 1.00 (0.611.65)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.09Z-score
OE missense 1.26 (1.111.42)
178 obs / 141.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.00 (0.611.65)
00.351.4
Missense OE?1.26 (1.111.42)
00.61.4
Synonymous OE?1.30
01.21.6
LoF obs/exp: 10 / 10.0Missense obs/exp: 178 / 141.5Syn Z: -1.77

This gene — mechanism propensity

DN
0.82top 10%
GOF
0.77top 25%
LOF
0.2093th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

57 submitted variants in ClinVar

Classification Summary

Pathogenic1
VUS35
Likely Benign10
Benign3
1
Pathogenic
35
VUS
10
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
1
0
0
1
Likely Pathogenic
0
0
0
0
0
VUS
0
35
0
0
35
Likely Benign
0
5
1
4
10
Benign
0
2
0
1
3
Total0431549

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

11 pathogenic / likely-pathogenic (of 21) ClinVar copy-number / structural variants overlap FCGR3B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

FCGR3B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →