C16ORF92

Chr 16

fertilization-influencing membrane protein 1

Also known as: C16orf92, FIMP

NCBI Gene: 146378 ENSG00000167194 UniProt: Q96LL3

The protein is predicted to be involved in sperm-oocyte fusion during fertilization and localizes to the plasma membrane. Currently, no well-established human diseases have been definitively linked to mutations in this gene. The gene shows low constraint against loss-of-function variants (pLI = 0.03, LOEUF = 1.26), suggesting tolerance to functional disruption.

ResearchSummary from RefSeq, UniProt

Predicted to be involved in fusion of sperm to egg plasma membrane involved in single fertilization. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOEUF 1.26

Clinical Summary— C16ORF92

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Population Constraint (gnomAD)

Low constraint (pLI 0.03) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

1 VUS of 2 total submissions

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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?

1.26LOEUF

pLI 0.032

Z-score 1.16

OE 0.49 (0.22–1.26)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.16Z-score

OE missense 0.95 (0.79–1.15)

76 obs / 80.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.49 (0.22–1.26)

0≤0.351.4

Missense OE?0.95 (0.79–1.15)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 3 / 6.1Missense obs/exp: 76 / 80.0Syn Z: 0.55

ClinVar Variant Classifications

2 submitted variants in ClinVar

ClinVar

Classification Summary

VUS1

Likely Benign1

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	1	1
Likely Benign	1	1
Benign	0	0
Total	2	2

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

View in ClinVar →

249 pathogenic / likely-pathogenic (of 265) ClinVar copy-number / structural variants overlap C16ORF92 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →