FAM43A

Chr 3

family with sequence similarity 43 member A

NCBI Gene: 131583 ENSG00000185112 UniProt: Q8N2R8

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.67

LOEUF

GOF

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?

0.67LOEUF

pLI 0.408

Z-score 2.24

OE 0.21 (0.09–0.67)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.49Z-score

OE missense 0.72 (0.63–0.82)

157 obs / 219.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.21 (0.09–0.67)

0≤0.351.4

Missense OE?0.72 (0.63–0.82)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 2 / 9.4Missense obs/exp: 157 / 219.2Syn Z: -0.34

Background carrier burden — how many people carry a rare variant somewhere in FAM43A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

607 rare PASS variants

Rare truncating (LoF)

1 in 6,000

37 rare PASS variants

Rare synonymous (reference)

1 in 160

334 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FAM43A. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 170	1 in 4,500
South Asian	~43k	1 in 100	≈ 1 in 10,000
Remaining (unassigned)	~30k	1 in 120	none seen
European (Finnish)	~27k	1 in 520	≈ 1 in 10,000
Admixed American	~22k	1 in 110	≈ 1 in 5,900
African / African American	~21k	1 in 150	≈ 1 in 17,000
East Asian	~20k	1 in 160	≈ 1 in 18,000
Ashkenazi Jewish	~13k	1 in 770	none seen
Middle Eastern	~2,884	1 in 86	none seen

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.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓