FAM170B

Chr 10

family with sequence similarity 170 member B

Also known as: C10orf73

NCBI Gene: 170370ENSG00000172538UniProt: A6NMN3

Predicted to be involved in fertilization; positive regulation of acrosome reaction; and regulation of fertilization. Located in acrosomal vesicle. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.45
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?
1.45LOEUF
pLI 0.000
Z-score 0.61
OE 0.78 (0.44–1.45)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.48Z-score
OE missense 0.90 (0.79–1.02)
160 obs / 178.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.78 (0.44–1.45)
0≤0.351.4
Missense OE?0.90 (0.79–1.02)
0≤0.61.4
Synonymous OE?0.73
0≤1.21.6
LoF obs/exp: 7 / 9.0Missense obs/exp: 160 / 178.0Syn Z: 1.89

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FAM170B · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients