IGSF10

Chr 3

immunoglobulin superfamily member 10

Also known as: CMF608

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]

ResearchGenerating clinical summary…
DNmechanismLOEUF 1.24
Clinical SummaryIGSF10
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
497 VUS of 724 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.24LOEUF
pLI 0.000
Z-score -0.15
OE 1.02 (0.841.24)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.63Z-score
OE missense 1.12 (1.081.17)
1523 obs / 1354.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.02 (0.841.24)
00.351.4
Missense OE?1.12 (1.081.17)
00.61.4
Synonymous OE?1.07
01.21.6
LoF obs/exp: 73 / 71.7Missense obs/exp: 1523 / 1354.4Syn Z: -1.33

This gene — mechanism propensity

DN
0.6455th %ile
GOF
0.4875th %ile
LOF
0.4627th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

724 submitted variants in ClinVar

Classification Summary

VUS497
Likely Benign130
Benign59
Conflicting19
497
VUS
130
Likely Benign
59
Benign
19
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
25
471
0
1
497
Likely Benign
10
46
6
68
130
Benign
1
25
3
30
59
Conflicting
19
Total36542999705

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

20 pathogenic / likely-pathogenic (of 29) ClinVar copy-number / structural variants overlap IGSF10 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

IGSF10 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →