FCGR1A

Chr 1

Fc gamma receptor Ia

Also known as: CD64, CD64A, FCG1, FCGR1, FCRI, FcgammaRI, IGFR1

This gene encodes a protein that plays an important role in the immune response. This protein is a high-affinity Fc-gamma receptor. The gene is one of three related gene family members located on chromosome 1. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
MultiplemechanismLOEUF 1.081 OMIM phenotype
Clinical SummaryFCGR1A
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
3 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.08LOEUF
pLI 0.000
Z-score 1.35
OE 0.60 (0.351.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.58Z-score
OE missense 0.88 (0.771.00)
150 obs / 171.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.60 (0.351.08)
00.351.4
Missense OE?0.88 (0.771.00)
00.61.4
Synonymous OE?0.94
01.21.6
LoF obs/exp: 8 / 13.3Missense obs/exp: 150 / 171.3Syn Z: 0.37

This gene — mechanism propensity

DN
0.82top 10%
GOF
0.74top 25%
LOF
0.2092th %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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FCGR1A · protein map & ClinVar variants

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