FNDC10

Chr 1

fibronectin type III domain containing 10

Also known as: C1orf233

The FNDC10 protein is predicted to be located in cellular membranes, though its specific function remains unclear. Mutations in this gene cause neurodevelopmental disorders, though the clinical phenotype and inheritance pattern are not well-established from available data. This gene appears to tolerate loss-of-function variants relatively well based on population genetics data.

Summary from RefSeq
Research Assistant →
0
Active trials
0
Pubs (1 yr)
139
P/LP submissions
P/LP missense
1.83
LOEUF
GOF
Mechanism· predicted
Clinical SummaryFNDC10
Population Constraint (gnomAD)
Low constraint (pLI 0.12) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
132 unique Pathogenic / Likely Pathogenic· 19 VUS of 153 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.83LOEUF
pLI 0.119
Z-score 0.41
OE 0.65 (0.201.83)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
1.43Z-score
OE missense 0.46 (0.330.64)
25 obs / 54.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.65 (0.201.83)
00.351.4
Missense OE0.46 (0.330.64)
00.61.4
Synonymous OE1.24
01.21.6
LoF obs/exp: 1 / 1.5Missense obs/exp: 25 / 54.9Syn Z: -0.95
DN
0.5181th %ile
GOF
0.6444th %ile
LOF
0.4332th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction 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

153 submitted variants in ClinVar

Classification Summary

Pathogenic125
Likely Pathogenic7
VUS19
Likely Benign2
125
Pathogenic
7
Likely Pathogenic
19
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
125
Likely Pathogenic
7
VUS
19
Likely Benign
2
Benign
0
Total153

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FNDC10 · 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 →
Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found