FCGR1A

Chr 1

Fc gamma receptor Ia

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

NCBI Gene: 2209 ENSG00000150337 UniProt: P12314 OMIM: 146760

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]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

[IgG receptor I, phagocytic, familial deficiency of]

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.08

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.08LOEUF

pLI 0.000

Z-score 1.35

OE 0.60 (0.35–1.08)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.58Z-score

OE missense 0.88 (0.77–1.00)

150 obs / 171.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.60 (0.35–1.08)

0≤0.351.4

Missense OE?0.88 (0.77–1.00)

0≤0.61.4

Synonymous OE?0.94

0≤1.21.6

LoF obs/exp: 8 / 13.3Missense obs/exp: 150 / 171.3Syn Z: 0.37

Background carrier burden — how many people carry a rare variant somewhere in FCGR1A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

277 rare PASS variants

Rare truncating (LoF)

1 in 1,600

32 rare PASS variants

Rare synonymous (reference)

1 in 320

111 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FCGR1A. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 190	1 in 2,000
South Asian	~43k	1 in 110	1 in 470
Remaining (unassigned)	~30k	1 in 93	1 in 850
European (Finnish)	~27k	1 in 740	1 in 620
Admixed American	~22k	1 in 120	1 in 1,700
African / African American	~21k	1 in 100	1 in 1,100
East Asian	~20k	1 in 160	1 in 380
Ashkenazi Jewish	~13k	1 in 240	≈ 1 in 3,300
Middle Eastern	~2,881	1 in 110	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 4 of 6 coding exons well covered in gnomAD exomes; exon 2 poorly covered; exon 1 marginal. Genomes: 2 of 6 (exons 1, 2, 3, 6 below).? see exons ↓