ARMC7

Chr 17

armadillo repeat containing 7

ENSG00000125449UniProt: Q9H6L4

As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs

0
Active trials
54
ClinVar variants
12
Pathogenic / LP
-0.1
Missense Z
1.21
LOEUF
0
Pubs (2 yr)
Clinical Summary— ARMC7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.04) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
12 Pathogenic / Likely Pathogenic· 38 VUS of 54 total submissions
Some data sources returned errors (2)

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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.
1.21LOEUF
pLI 0.036
Z-score 1.23
OE 0.47 (0.21–1.21)
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.
-0.09Z-score
OE missense 1.02 (0.89–1.18)
129 obs / 126.2 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.0.47 (0.21–1.21)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.02 (0.89–1.18)
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.0.90
0≤1.21.6
LoF obs/exp: 3 / 6.4Missense obs/exp: 129 / 126.2Syn Z: 0.64

ClinVar Variant Classifications

54 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
Likely Pathogenic1
VUS38
Likely Benign4
11
Pathogenic
1
Likely Pathogenic
38
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
11
0
11
Likely Pathogenic
0
0
1
0
1
VUS
0
30
8
0
38
Likely Benign
0
4
0
0
4
Benign
0
0
0
0
0
Total03420054

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

View in ClinVar →

Protein Context — Lollipop Plot

ARMC7 · 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
Structure of the activated human minor spliceosome.
Bai R et al.·Science
2021
RNA Binding Motif Protein 48 Is Required for U12 Splicing and Maize Endosperm Differentiation.
Bai F et al.·Plant Cell
2019
Exploring the cell-free total RNA transcriptome in diffuse large B-cell lymphoma and primary mediastinal B-cell lymphoma patients as biomarker source in blood plasma liquid biopsies.
Decruyenaere P et al.·Front Oncol
2023Cohort
A novel lncRNA-mRNA-miRNA signature predicts recurrence and disease-free survival in cervical cancer.
Li M et al.·Braz J Med Biol Res
2021
Gene biomarker discovery at different stages of Alzheimer using gene co-expression network approach.
Soleimani Zakeri NS et al.·Sci Rep
2020
[Whole-genome association studies of distribution of developmental abnormalities and other breeding-valuable qualitative traits in offspring of the Russian large-white boars].
Траспов АА et al.·Vavilovskii Zhurnal Genet Selektsii
2020
Molecular cloning, characterization and expression analysis of ARMC6, ARMC7, ARMC8 from Pacific white shrimp, Litopenaeus vannamei.
Song S et al.·Gene
2019
Global effect on multi-segment physiological tremors due to localized fatiguing contraction.
Chen YC et al.·Eur J Appl Physiol
2012Clinical trial
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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

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