FAM86B2

Chr 8

family with sequence similarity 86 member B2

NCBI Gene: 653333ENSG00000145002UniProt: P0C5J1

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

0
Active trials
66
Pathogenic / LP
160
ClinVar variants
0
Pubs (1 yr)
-2.4
Missense Z
1.74
LOEUF
Clinical Summary— FAM86B2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
66 Pathogenic / Likely Pathogenic· 80 VUS of 160 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.74LOEUF
pLI 0.000
Z-score -0.05
OE 1.02 (0.59–1.74)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-2.39Z-score
OE missense 1.67 (1.47–1.88)
169 obs / 101.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.02 (0.59–1.74)
0≤0.351.4
Missense OE1.67 (1.47–1.88)
0≤0.61.4
Synonymous OE1.42
0≤1.21.6
LoF obs/exp: 8 / 7.8Missense obs/exp: 169 / 101.4Syn Z: -2.15

ClinVar Variant Classifications

160 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic64
Likely Pathogenic2
VUS80
Likely Benign8
Benign6
64
Pathogenic
2
Likely Pathogenic
80
VUS
8
Likely Benign
6
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
64
0
64
Likely Pathogenic
0
0
2
0
2
VUS
0
78
2
0
80
Likely Benign
0
8
0
0
8
Benign
0
1
5
0
6
Total087730160

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

View in ClinVar →

FAM86B2 · 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