LRRC37A2

Chr 17

leucine rich repeat containing 37 member A2

ENSG00000238083UniProt: A6NM11
867
ClinVar variants
32
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— LRRC37A2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
32 Pathogenic / Likely Pathogenic· 330 VUS of 867 total submissions
Some data sources returned errors (1)

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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.
1.04LOEUF
pLI 0.000
Z-score 1.44
OE 0.66 (0.44–1.04)
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.
-0.38Z-score
OE missense 1.06 (0.97–1.16)
328 obs / 309.4 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.0.66 (0.44–1.04)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.06 (0.97–1.16)
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.0.99
0≤1.21.6
LoF obs/exp: 14 / 21.1Missense obs/exp: 328 / 309.4Syn Z: 0.05

ClinVar Variant Classifications

867 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic13
VUS330
Likely Benign151
Benign41
Conflicting17
19
Pathogenic
13
Likely Pathogenic
330
VUS
151
Likely Benign
41
Benign
17
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
5
3
11
0
19
Likely Pathogenic
5
6
2
0
13
VUS
3
314
9
4
330
Likely Benign
0
19
60
72
151
Benign
0
2
33
6
41
Conflicting
—17
Total1334411582571

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

View in ClinVar →

Protein Context — Lollipop Plot

LRRC37A2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Evaluation of circulating plasma proteins in breast cancer using Mendelian randomisation.
Mälarstig A et al.·Nat Commun
2023
Shared Genetics and Comorbid Genes of Amyotrophic Lateral Sclerosis and Parkinson's Disease.
Tian Y et al.·Mov Disord
2023
Differential regulation of LRRC37A2 in gastric cancer by DNA methylation.
Wisnieski F et al.·Epigenetics
2022
Leveraging Alzheimer's Disease Omics to Identify Pleiotropic Genes Contributing to Neurodegeneration in Primary Open-Angle Glaucoma.
Tolosa-Tort P et al.·Mol Neurobiol
2025
Screening non-MAPT genes of the Chr17q21 H1 haplotype in Parkinson's disease.
Soto-Beasley AI et al.·Parkinsonism Relat Disord
2020
Identifying Biomarkers Using Support Vector Machine to Understand the Racial Disparity in Triple-Negative Breast Cancer.
Sahoo B et al.·J Comput Biol
2023
MAPT Locus in Parkinson's Disease Patients of Ashkenazi Origin: A Stratified Analysis.
Shani S et al.·Genes (Basel)
2023Cohort
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