IGSF10

Chr 3

immunoglobulin superfamily member 10

Also known as: CMF608

NCBI Gene: 285313 ENSG00000152580 UniProt: Q6WRI0 OMIM: 617351

Predicted to be involved in regulation of neuron migration. Predicted to act upstream of or within ossification. Located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Predicted to be involved in regulation of neuron migration. Predicted to act upstream of or within ossification. Located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.24

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.24LOEUF

pLI 0.000

Z-score -0.15

OE 1.02 (0.84–1.24)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.63Z-score

OE missense 1.12 (1.08–1.17)

1523 obs / 1354.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.02 (0.84–1.24)

0≤0.351.4

Missense OE?1.12 (1.08–1.17)

0≤0.61.4

Synonymous OE?1.07

0≤1.21.6

LoF obs/exp: 73 / 71.7Missense obs/exp: 1523 / 1354.4Syn Z: -1.33

Background carrier burden — how many people carry a rare variant somewhere in IGSF10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 14

3,570 rare PASS variants

Rare truncating (LoF)

1 in 97

638 rare PASS variants

Rare synonymous (reference)

1 in 36

1,273 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for IGSF10. 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 22	1 in 160
South Asian	~43k	1 in 14	1 in 91
Remaining (unassigned)	~30k	1 in 13	1 in 96
European (Finnish)	~27k	1 in 54	1 in 490
Admixed American	~22k	1 in 14	1 in 100
African / African American	~21k	1 in 13	1 in 110
East Asian	~20k	1 in 21	1 in 76
Ashkenazi Jewish	~13k	1 in 64	1 in 380
Middle Eastern	~2,884	1 in 16	1 in 96

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 6 coding exons well covered in gnomAD exomes and genomes.? see exons ↓