FAM86B1

Chr 8

family with sequence similarity 86 member B1 (gene/pseudogene)

NCBI Gene: 85002ENSG00000186523UniProt: Q8N7N1

Predicted to enable protein-lysine N-methyltransferase activity. Predicted to be involved in methylation. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
73
Pathogenic / LP
181
ClinVar variants
0
Pubs (1 yr)
-2.2
Missense Z
1.84
LOEUF
Clinical Summary— FAM86B1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
73 Pathogenic / Likely Pathogenic· 92 VUS of 181 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.84LOEUF
pLI 0.000
Z-score -0.49
OE 1.19 (0.71–1.84)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-2.17Z-score
OE missense 1.59 (1.41–1.81)
169 obs / 106.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.19 (0.71–1.84)
0≤0.351.4
Missense OE1.59 (1.41–1.81)
0≤0.61.4
Synonymous OE1.37
0≤1.21.6
LoF obs/exp: 9 / 7.5Missense obs/exp: 169 / 106.0Syn Z: -1.97

ClinVar Variant Classifications

181 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic71
Likely Pathogenic2
VUS92
Likely Benign12
Benign4
71
Pathogenic
2
Likely Pathogenic
92
VUS
12
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
71
0
71
Likely Pathogenic
0
0
2
0
2
VUS
0
90
2
0
92
Likely Benign
0
10
1
1
12
Benign
0
0
4
0
4
Total0100801181

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

View in ClinVar →

FAM86B1 · 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 →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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