FAM90A26

Chr 4

family with sequence similarity 90 member A26

Also known as: FAM90A26P

NCBI Gene: 100287045 ENSG00000229924 UniProt: D6RGX4

I cannot provide a clinical summary for FAM90A26 as no information about protein function, associated diseases, or inheritance patterns was provided in the data. The gene appears to have relatively low constraint scores (pLI: 0.29, LOEUF: 1.89), but without additional clinical or functional information, I cannot make any claims about its role in pediatric neurological conditions.

Research

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

1.89

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.89LOEUF

pLI 0.287

Z-score 0.23

OE 0.00 (0.00–1.89)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.81Z-score

OE missense 2.47 (0.97–1.97)

6 obs / 2.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.00 (0.00–1.89)

0≤0.351.4

Missense OE?2.47 (0.97–1.97)

0≤0.61.4

Synonymous OE?2.17

0≤1.21.6

LoF obs/exp: 0 / 0.1Missense obs/exp: 6 / 2.4Syn Z: -1.08

Background carrier burden — how many people carry a rare variant somewhere in FAM90A26?

gnomAD v4 · ~131k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 42

93 rare PASS variants

Rare truncating (LoF)

1 in 670

7 rare PASS variants

Rare synonymous (reference)

1 in 160

42 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FAM90A26. 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)	~94k	1 in 58	1 in 460
South Asian	~12k	1 in 250	≈ 1 in 12,000
Admixed American	~7,696	1 in 110	≈ 1 in 6,400
European (Finnish)	~5,554	1 in 410	≈ 1 in 5,100
Remaining (unassigned)	~5,527	1 in 160	≈ 1 in 4,400
East Asian	~4,345	1 in 230	≈ 1 in 3,900
African / African American	~1,917	1 in 100	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): 0 of 4 coding exons well covered in gnomAD exomes; exons 4, 5, 6, 7 poorly covered. Genomes: 0 of 4 (exons 4, 5, 6, 7 below).? see exons ↓