FAM86C1P

Chr 11

family with sequence similarity 86, member C

Also known as: FAM86C, FAM86C1

NCBI Gene: 55199 ENSG00000158483 UniProt: Q9NVL1

The protein is predicted to function as a methyltransferase involved in methylation processes and forms part of protein-containing complexes. This gene shows very low constraint against loss-of-function variants (pLI near zero, LOEUF 1.95), suggesting that complete loss of function may be well-tolerated. No established human disease associations have been reported for mutations in this gene.

ResearchSummary from RefSeq

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

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.95

LOEUF

Mechanism· predicted

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?

1.95LOEUF

pLI 0.000

Z-score -1.76

OE 1.65 (1.04–1.95)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.69Z-score

OE missense 1.50 (1.31–1.74)

133 obs / 88.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.65 (1.04–1.95)

0≤0.351.4

Missense OE?1.50 (1.31–1.74)

0≤0.61.4

Synonymous OE?1.61

0≤1.21.6

LoF obs/exp: 14 / 8.5Missense obs/exp: 133 / 88.4Syn Z: -2.87

Background carrier burden — how many people carry a rare variant somewhere in FAM86C1P?

gnomAD v4 · ~730k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 1,400

39 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in FAM86C1P; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 7 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	none seen	1 in 1,700
South Asian	~43k	none seen	1 in 4,300
Remaining (unassigned)	~30k	none seen	1 in 1,300
Admixed American	~22k	none seen	1 in 1,800
African / African American	~21k	none seen	1 in 450
East Asian	~20k	none seen	1 in 1,100
Middle Eastern	~2,260	none seen	≈ 1 in 1,000

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.