LGALS1

Chr 22

galectin 1

Also known as: GAL1, GBP

NCBI Gene: 3956 ENSG00000100097 UniProt: P09382 OMIM: 150570

Galectin-1 is a lectin that binds beta-galactoside and complex carbohydrates, regulating apoptosis, cell proliferation, and T-cell immune responses. Biallelic mutations cause autosomal recessive facioscapulohumeral muscular dystrophy with early childhood onset affecting facial, shoulder, and upper arm muscles. The gene shows low constraint to loss-of-function variants, consistent with recessive inheritance requiring mutations in both copies.

OMIM ResearchSummary from RefSeq, UniProt

The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. This gene product may act as an autocrine negative growth factor that regulates cell proliferation. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 1.54

Clinical Summary— LGALS1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

19 VUS of 32 total submissions

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Clinical Trials

4 active or recruiting trials — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.54LOEUF

pLI 0.004

Z-score 0.67

OE 0.70 (0.34–1.54)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.45Z-score

OE missense 0.86 (0.71–1.05)

73 obs / 84.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.70 (0.34–1.54)

0≤0.351.4

Missense OE?0.86 (0.71–1.05)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 4 / 5.7Missense obs/exp: 73 / 84.8Syn Z: 0.17

This gene — mechanism propensity

0.75top 25%

GOF

0.5268th %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

32 submitted variants in ClinVar

ClinVar

Classification Summary

VUS19

Likely Benign1

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	19	19
Likely Benign	1	1
Benign	0	0
Total	20	20

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

View in ClinVar →

19 pathogenic / likely-pathogenic (of 22) ClinVar copy-number / structural variants overlap LGALS1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →