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]

Research Assistant →
0
Active trials
0
Pubs (1 yr)
59
P/LP submissions
0%
P/LP missense
1.45
LOEUF
—
Mechanism
Clinical Summary— FAM170B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
59 unique Pathogenic / Likely Pathogenic· 82 VUS of 150 total submissions
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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 OE0.78 (0.44–1.45)
0≤0.351.4
Missense OE0.90 (0.79–1.02)
0≤0.61.4
Synonymous OE0.73
0≤1.21.6
LoF obs/exp: 7 / 9.0Missense obs/exp: 160 / 178.0Syn Z: 1.89

ClinVar Variant Classifications

150 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic38
Likely Pathogenic21
VUS82
Likely Benign8
38
Pathogenic
21
Likely Pathogenic
82
VUS
8
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
38
0
38
Likely Pathogenic
0
0
21
0
21
VUS
0
53
29
0
82
Likely Benign
0
8
0
0
8
Benign
0
0
0
0
0
Total061880149

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

View in 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.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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