FAM74A1

Chr 9

family with sequence similarity 74 member A1

Also known as: FAM74A5

I cannot write a clinical gene summary for FAM74A1 as no information about this gene's protein function, associated diseases, or inheritance patterns was provided in the data below the instructions. To create an accurate clinical summary, I would need details about what the FAM74A1 protein does, what neurological conditions result from mutations in this gene, and the inheritance pattern of those conditions.

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in FAM74A1?

gnomAD v4 · ~156k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 22,000

1 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in FAM74A1; 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 · 3 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~78k	none seen	≈ 1 in 39,000
Admixed American	~15k	none seen	≈ 1 in 3,700
Remaining (unassigned)	~6,890	none seen	≈ 1 in 6,900

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.