IGLL5

Chr 22

immunoglobulin lambda like polypeptide 5

Also known as: IGLV, VL-MAR

NCBI Gene: 100423062ENSG00000254709UniProt: B9A064

This gene encodes one of the immunoglobulin lambda-like polypeptides. It is located within the immunoglobulin lambda locus but it does not require somatic rearrangement for expression. The first exon of this gene is unrelated to immunoglobulin variable genes; the second and third exons are the immunoglobulin lambda joining 1 and the immunoglobulin lambda constant 1 gene segments. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

168
ClinVar variants
84
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— IGLL5
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
84 Pathogenic / Likely Pathogenic· 72 VUS of 168 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.97LOEUF
pLI 0.000
Z-score -2.18
OE 2.01 (1.10–1.97)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-6.44Z-score
OE missense 2.69 (1.93–2.00)
310 obs / 115.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.2.01 (1.10–1.97)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.2.69 (1.93–2.00)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.2.49
0≤1.21.6
LoF obs/exp: 11 / 5.5Missense obs/exp: 310 / 115.4Syn Z: -8.40

ClinVar Variant Classifications

168 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic72
Likely Pathogenic12
VUS72
Likely Benign10
Benign1
Conflicting1
72
Pathogenic
12
Likely Pathogenic
72
VUS
10
Likely Benign
1
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
72
0
72
Likely Pathogenic
0
0
12
0
12
VUS
0
29
43
0
72
Likely Benign
0
7
3
0
10
Benign
0
0
1
0
1
Conflicting
—1
Total0361310168

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

View in ClinVar →

Protein Context — Lollipop Plot

IGLL5 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Distinct genetic alterations in CD10-negative MUM1-positive follicular lymphoma.
Yang Y et al.·Pathology
2025
Dynamic landscape of m6A modifications and related post-transcriptional events in muscle-invasive bladder cancer.
Zhang L et al.·J Transl Med
2024
A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5.
White BS et al.·Blood Cancer J
2018
Identification of hub genes and therapeutic drugs in rheumatoid arthritis patients.
Wu B et al.·Clin Rheumatol
2021Cohort
Molecular characteristics in Chinese with chronic lymphocytic leukemia by next-generation sequencing: A single-center retrospective analysis.
Cao Y et al.·Int J Lab Hematol
2023
Characterization of molecular genetics and clinicopathology in thymic MALT lymphoma.
Wang X et al.·Ann Hematol
2022
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project.
Ng JK et al.·Hum Mutat
2022
The molecular hallmarks of primary and secondary vitreoretinal lymphoma.
Bonzheim I et al.·Blood Adv
2022
A proteomic network approach resolves stage-specific molecular phenotypes in chronic traumatic encephalopathy.
Gutierrez-Quiceno L et al.·Mol Neurodegener
2021
Next-Generation Sequencing of Vitreoretinal Lymphoma by Vitreous Liquid Biopsy: Diagnostic Potential and Genotype/Phenotype Correlation.
Kwak JJ et al.·Invest Ophthalmol Vis Sci
2023
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools