C3ORF80

Chr 3

chromosome 3 open reading frame 80

NCBI Gene: 401097 ENSG00000180044 UniProt: F5H4A9

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Research

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.58

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.58LOEUF

pLI 0.190

Z-score 0.93

OE 0.38 (0.13–1.58)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.40Z-score

OE missense 0.86 (0.69–1.08)

53 obs / 61.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.38 (0.13–1.58)

0≤0.351.4

Missense OE?0.86 (0.69–1.08)

0≤0.61.4

Synonymous OE?1.28

0≤1.21.6

LoF obs/exp: 1 / 2.6Missense obs/exp: 53 / 61.9Syn Z: -1.18

Background carrier burden — how many people carry a rare variant somewhere in C3ORF80?

gnomAD v4 · ~690k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 190

392 rare PASS variants

Rare truncating (LoF)

1 in 3,100

55 rare PASS variants

Rare synonymous (reference)

1 in 410

200 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for C3ORF80. 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)	~538k	1 in 330	1 in 2,800
South Asian	~39k	1 in 120	1 in 3,300
Remaining (unassigned)	~29k	1 in 110	1 in 3,700
African / African American	~21k	1 in 150	≈ 1 in 8,200
Admixed American	~18k	1 in 140	none seen
East Asian	~18k	1 in 280	1 in 2,500
European (Finnish)	~17k	1 in 900	≈ 1 in 15,000
Ashkenazi Jewish	~12k	1 in 630	1 in 1,700
Middle Eastern	~2,837	1 in 220	≈ 1 in 2,800

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): 0 of 1 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 1.? see exons ↓