FAM157A

Chr 3

family with sequence similarity 157 member A

Also known as: GTF2IP18

NCBI Gene: 728262 ENSG00000236438 UniProt: C9JC47

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

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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 FAM157A?

gnomAD v4 · ~693k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 1,800

9 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in FAM157A; 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)	~535k	none seen	1 in 4,700
South Asian	~39k	none seen	1 in 3,500
Remaining (unassigned)	~29k	none seen	≈ 1 in 21,000
African / African American	~21k	none seen	1 in 640
East Asian	~18k	none seen	≈ 1 in 18,000
Admixed American	~18k	none seen	≈ 1 in 6,700
Middle Eastern	~2,016	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.