FMR1NB

Chr X

FMR1 neighbor

Also known as: CT37, NY-SAR-35, NYSAR35

NCBI Gene: 158521ENSG00000176988UniProt: Q8N0W7

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
95
Pathogenic / LP
132
ClinVar variants
1
Pubs (1 yr)
-0.3
Missense Z
0.92
LOEUF
Clinical Summary— FMR1NB
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.08) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
95 Pathogenic / Likely Pathogenic· 28 VUS of 132 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.92LOEUF
pLI 0.082
Z-score 1.73
OE 0.36 (0.16–0.92)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.32Z-score
OE missense 1.09 (0.94–1.27)
117 obs / 107.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.36 (0.16–0.92)
0≤0.351.4
Missense OE1.09 (0.94–1.27)
0≤0.61.4
Synonymous OE1.16
0≤1.21.6
LoF obs/exp: 3 / 8.4Missense obs/exp: 117 / 107.7Syn Z: -0.82
DN
DN
0.76top 25%
GOF
0.4381th %ile
LOF
0.2386th %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

132 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic92
Likely Pathogenic3
VUS28
Likely Benign8
Conflicting1
92
Pathogenic
3
Likely Pathogenic
28
VUS
8
Likely Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
92
0
92
Likely Pathogenic
0
0
3
0
3
VUS
0
23
5
0
28
Likely Benign
0
5
0
3
8
Benign
0
0
0
0
0
Conflicting
—1
Total0281003132

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

View in ClinVar →

FMR1NB · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Discovery of new genetic loci for male sexual orientation in Han population
Hu SH et al.·Cell Discov
2021
A survey of human cancer-germline genes: Linking X chromosome localization, DNA methylation and sex-biased expression in early embryos.
Loriot A et al.·PLoS Genet
2025
Altered mitochondrial function in spermatozoa from patients with repetitive fertilization failure after ICSI revealed by proteomics.
Torra-Massana M et al.·Andrology
2021Cohort
Author Correction: Discovery of new genetic loci for male sexual orientation in Han population
Hu SH et al.·Cell Discov
2021
Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?
Jezela-Stanek A et al.·Clin Dysmorphol
2021Cohort
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients