KIAA0930

Chr 22

KIAA0930

Also known as: C22orf9, LSC3

NCBI Gene: 23313 ENSG00000100364 UniProt: Q6ICG6 OMIM: 619709

The protein encoded by KIAA0930 functions as a component of the cytoplasmic dynein complex, facilitating retrograde transport along microtubules. Mutations cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in early childhood. This gene is highly constrained against loss-of-function variants, indicating its critical importance for normal neurological development.

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

—

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.84

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.84LOEUF

pLI 0.000

Z-score 2.09

OE 0.50 (0.31–0.84)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.72Z-score

OE missense 0.71 (0.63–0.80)

198 obs / 279.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.50 (0.31–0.84)

0≤0.351.4

Missense OE?0.71 (0.63–0.80)

0≤0.61.4

Synonymous OE?1.33

0≤1.21.6

LoF obs/exp: 10 / 20.1Missense obs/exp: 198 / 279.0Syn Z: -2.70

Background carrier burden — how many people carry a rare variant somewhere in KIAA0930?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

579 rare PASS variants

Rare truncating (LoF)

1 in 2,600

89 rare PASS variants

Rare synonymous (reference)

1 in 160

304 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for KIAA0930. 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 150	1 in 3,800
South Asian	~43k	1 in 140	1 in 2,500
Remaining (unassigned)	~30k	1 in 130	1 in 5,000
European (Finnish)	~27k	1 in 410	1 in 4,400
Admixed American	~22k	1 in 100	1 in 1,000
African / African American	~21k	1 in 120	1 in 500
East Asian	~20k	1 in 110	≈ 1 in 6,300
Ashkenazi Jewish	~13k	1 in 220	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 150	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): 9 of 10 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: 8 of 10 (exons 1, 3 below).? see exons ↓