ARMC9

armadillo repeat containing 9, the group of MicroRNA protein coding host genes|Armadillo repeat containing

Basic information

Region (hg38): 2:231198546-231376848

Links

ENSG00000135931NCBI:80210OMIM:617612HGNC:20730Uniprot:Q7Z3E5AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • Joubert syndrome 30 (Strong), mode of inheritance: AR
  • Joubert syndrome (Supportive), mode of inheritance: AR
  • Joubert syndrome 30 (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Joubert syndrome 30AREndocrineThe condition has been described as involving panhypopituitarism, and awareness may allow early diagnosis and medical management (eg, with hormone replacement therapy)Endocrine; Musculoskeletal; Neurologic; Ophthalmologic28625504

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ARMC9 gene.

  • not provided (14 variants)
  • Joubert syndrome 30 (2 variants)
  • Familial aplasia of the vermis (1 variants)
  • ARMC9-related Joubert syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARMC9 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
8
clinvar
122
clinvar
12
clinvar
142
missense
2
clinvar
279
clinvar
8
clinvar
13
clinvar
302
nonsense
5
clinvar
3
clinvar
8
start loss
0
frameshift
10
clinvar
3
clinvar
1
clinvar
14
inframe indel
7
clinvar
7
splice donor/acceptor (+/-2bp)
17
clinvar
3
clinvar
20
splice region
1
19
21
5
46
non coding
8
clinvar
78
clinvar
18
clinvar
104
Total 15 19 311 208 44

Highest pathogenic variant AF is 0.0000329

Variants in ARMC9

This is a list of pathogenic ClinVar variants found in the ARMC9 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
2-231203676-AAGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTGGAACCCCGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCATTCTACTCCAGCCCAAGCAACAACAGCGAGACTCTGTCTCAAAAACAAACAAACAAAAAAAAACCTCACCAAAAACCAAACAAATGAAAAAACCAGAAAACAAAAGACTTGGGGCATAGTGGCACACTCTGTAGGCCCAGCTACTCAGGAGGCTGAGGTGGGAGGACTGCTTGAGTCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCATGTCACTGCACTCTAGCCTGGGCAACAGAGGGAAACTCTGTCTCAGGAAAAAAAAAAAAAAAAAAAAAGGACATCAGTGGTGTCAGTCCCCTCCTCCATACTCTCTCTGAGCCTCCTGTTACTGTCAGCCTAATGTCCAAGCCACTTACCAGCTCTGTAAGGCCCACCTGACCTGGCCCCGGCCCCCCATTGCCTGCTGCTGTCTGCCTCACCCCTAGCTACATCCCAATACCCCAAGACTGCAGAGCTCTTCAGCCTGAGGCCTGTGCACTAACAAAGCCATCTTCCCCAGATCCAGGTGCTCAATCTTTGCTGAAATGTCACATTCCCAGTGAGGCCATCAACCACTCTATCTAAAATAACCCCATACCCGTCTCCTTCAGGTTCTGTCCCTTTCCTTGCGCTGTTTTCTTCATGTCTGGAATCAATTTCCACTCCGTCCATGTTTTTGAGCCTGTACTGTGTGCCAGGCACTGGTCTAGGCACAGGGGAACACCTGTCAGGTGCTGTTGAGAAAAATCAAGCAGTACAAAGGGCTGAGAAGTGATGGGCCGACCTCTTAGAAAGGGTGGTCAGGGCAAGACTCTCTGAGGAGGTGACAGTTAGGCAGAGACCTGAATGAGACGTATCTGAAGGAAGGGCAGTGAGCCAGAGTTCACGAGGGCAGGCGTGTGCTTTGGGTGTTCAGTGGGTGTCCACAGGAACCACACAGTGGCCAGTGTGGCTCAGGTTTACAGAACAAATGGGAGTGTGTCAGAGGCCAAGTTGTCTAGGGCTTTGGGAGTTGAGCCTAAGGAGCCTGGCCTTCATCTGGAGGGCGCTGGAACCACAGGAGGGTCCCAAGCAGGAGGGGAATGCTCACTTGTTAAAAGTGTAGAAATTGGATTGAAGTGGAGAGAAAGGAGGTGGGGAGGCAGTGGCAGAAAAATGTAAGGTTACAGACTCAGAAGAGATCTGACTGAGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGGCGGGAGGATTGCATTACCCAGGAGTTTGGCAGCTTAGTAAGACCCTGTCTCCCTGTCTCTACTTAAAAAAAAAAAAAAAAAAATTACCTGGGTATGGTGGCATGCACCTATAGTTCTAGCCACTGGGGAGGCTGAGGAGGGAGGATCCCTTGAACCCAGGAGTTTTAGCTTGCAGTGAGCTATGATTGCACCATTGCACTCCATCCTGGGCAACGGAGTGAGATCCCATCTCAAAAAAAAAATTCGATGAGTTCTGACACATTCTGAATTTTATAGATGAAGAAAGGCTCTGCACTTCAGTGAGTTGTCTCAGATCAGGTGCCAGTGAATGGCATGGTTAACATTAGAGCCCAGACCTTTTCATTCCTCTGGGGTTACGGGCAACTGCTTTGGGCTGAGCCTGGGGTGTGGGCCATGGGGAATGACTGCTTTGGGTACACCTTGAGGGAGGGCTAGTAGAAAGAGTAGGAAGAGTTTCTTTTGACTTTAGCCATTGTATTTCCTAGTGCCGCTGAACAAATGACCATAAACTGAGTGGTGTCAAGCAACAAAGATTTAATATCTTCTAGTTCTGGAGGTCAGAAGTCTGAAATGGCTTTCACTGAGCTGAAGTCAAGGTGTCTGCAGTGCTGGATCATTTCTGGATGCAGTGGGAGGATCTATTCCTTGCCTTATGCAGTTTTTAGAGGCTCCTTACCCTCCTTGTCTTATGCCACTTTATCCCCTTTAAAGCCTGCAGTGGCTGTTGAGTCTTTCTCACATCTCATCATGCTGGCACTGACCCTCTTGCCTCCGTCTGCCCCCCTCCCTCTGCTGTGACTGCCTTGGGCCCACCTGGGTAATCCAGGATCATCCCCCAATTTAAAGGTCAGCTGATGAGCAACCTTAATTCCATCTGCACCTTAATTCCCCCTTGCCGTGTAACCTCACGTATTCACAGGTTCTGGGGATTGGCGCATGGATGTCTTTGGGGGCCATTATTCTGCTCACCACAACCACCTTTTTGTAGTTTCATAGGTGGTTGAAATGAAAGCTGTTGTCTTGTATTTTTGCCTTCTAGAGATTTTTGCTGTGAGAATTAATTACCAGTAACAGTTCAATATGGGGGACATTCTGGCTCATGAATCTGAATTACTTGGACTAGTGAAAGAGGTAGGTATATTATACAAAGCAGAGGTCACAGAGAAACAGATCTTGAAAACTTGTGTTTTAAAATGCAACAAACTATTTAGTGCCTTGTAATGTTTCTTCTATTGTTATGTTGGAGCTATTTTTCTATTATATAATATTCCATGTATTTACATTTTGGTTTTATAACTAAACAAATCTTAAAGCCACTTAAAAAGTCCCTTGAAAGAAAATTATAAAAGCAATACACGTCCACGGTAAAAGATTCAAGCACTACAGAAGTATAAAAAGGAAATTTCCCTCCCAGACTTTTTTCTATGTATAGTAAAAATATATTCACATGCCTGTAGTTTGTTTTACAGAATGGGATGATACATTGTTCTGTAGCTTGCTTTTTATCTGCCAACAATAATATAGCATGAACATCTGCCTATGATCGGCCCTAGACATTTGAATGCCATAGAGTATTTCATTGAGTGGCTGCATCATAATTTTTTTAACTCATTGTCTGGTAATGGCCTAGGTTTCCTACGCTAAAAGCTTTGACAAGTAGGGCCCAGGCCTTAAACTTTCTGGTGCTAAAGAAATGGTTCGCGCTTGCTGCTGCTTAACTGTGTGAGTAACCACCTGCAGGTTGCGAGAGCCACGGGCCTGGAGCAGGGATGAGGCACCCACCGTGCAACTGCAGATTTGGAATTTGGTGGTGTGATGGCGAATATATTCTTTTTTAAAAAATTTACATTTAAAAATCTTTTTAGAGACAAGGTCTTGTTCTGCCGCCTAGGCTGGAGTGCAGTGGCATCATCATGGTTCACTGTAGCCTTGAACTCCTGGGCTCAAGCAATCTGCCTGCCTCAGCCTCCTGGGTAGCTGAGACTACAGACGTGCACCACCATGCTCAGCTAGGTTTTATTCTAATTTTTGTAGAGATAGGATCTCACTCTGTTGTCCAAGCTGGTCTTGAACTCTTGGCTTCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTTGTGGGATTGCAGGCATGAGCCACTGCACCCTACCTATATAACACATTTTCTTTTAAAAATTTATTTATTTGAGATGGGGTCTCGCTTTGTTGCCCAGGCTGGTCTCAAAGTCCTAGGCTCAAGCGATCCTCCTACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCATGCCACCTGGCCTATACCATTTTTTCTTTTTTTTTTCTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCAGGAGTACAGTGGTGCTTTCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCGCCACTGCGCCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCTTGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGTCACGGCTCCTGGCCGGTAGTTCTATTTTTATTTTTTTGAGGAACCTCCATACAGTTTTCTATAATGGCCGTACCAATTTACAGTCTCACCAAGAGTGCACAAGTGTTTCCTTTTCTCCACATCCTTGCCAAGACTTTTTATCTTTCGTCTTTTTTGTAATAGCCATTCTGACAGGTGTGAGGTAATTAGGTCTCTGTGGTTTTGATTTGCATTTCTCTGATTGTTAGTGATGTTAAGCACCTTTTCATGTATCTGTTGGTCTTTTTAATGTCTTCTTTGGATAAATATCTATTCAGATCCTTTGGCTGTTTTTTAATTGGATTATTTGTTTGTTTTGCTGTTGAATTGAATTATTTATTTTTTATAGTATTTAGATTTTGCTGAATTTGAAGACACCTTGAAAACATTTTCAAAAGAATGCAAAATAAAAGGAAAACCATTGTGTAAAACAGTAGGCGGATCTTTCAGAGACTCCAAATCATTGACAATTCAGGTAACATTTTGCTTATTTTTCATCCCTGTAGATAATTCAGGATGCTCCCAACTTGTGGAAAATGCTGCTGTTGGATAGTGCTAGAATAGTTTTTGAGCACTTGCTCAGAGTTACTTTAGATGGCACAAGTGTTTATAGATGAACTAATAATGTCATTTTAAATCTCTGTACCCTCCCCAGGAAATGTGTGGCCATATAAGATCTTTCACAAACATTTCTTGGGAAGAAGGAAAAGAAGAAACCATGCAGTGTTTAGGAACTGAGACAATTGTAGCCTTCCTCCTGAGGAGTTTCAGGTTATTAATTCTAGGCACTGGGGATCCAGCAGTGAACAAACAAAATCCAGCCCCTTGCCAGCACAGCATTTGCATTCTAGCTTGGGGAGGTTGGAGGGAACAGGGAGCAAGAGTGAGACTGACAAGGCGGGTCTGTGAAAGGAAGTCTGAATAGCTCTGTGAATACCAGTGGGCTGCAGGGGCACAGAGGTTATACAGACCTCAACTCTCAGGGTTAGAAGGGACCTTAAAAATCCTTGACTAGGCATGGTGGCTGAATCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGACCGCATAAACCCAGGAGTTCAAGACCAGCCTGTGCAACACAGTAGGACCTCGTTTCTTTTTCTTTTTTTTTGAGATGGAGTCTCTCGCTCTGTCGCCCAGGCTGGAGTGCGGTGGTACGATCTCGGCTCATCACCACCTCTGCCTCCAGGATTCAAGCGATTCTCCTGCCTCACCCTCCCTAGTAGCTAGGATTACAGGCACGTGCTACTGCGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTACATTGGCCAGGCTAGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAAGTGCTGAGGTTACAGATGTGAGCCACCATGCCCAGCCAGAACCTCGTTTCTATAAAAAATAAAAAATTGGCCGAGCATGGTGGCATGCACCTGTAGTCCCAGCTACTTAGGTGGCTGAGGTAGGAGGATCACTTGAGCCTGGGAAATCAAGGCTGCATTGAGCCATGATCATACTGCTGCACTCCAGCTGTAGTGACAGAGTGAGACCCTGTCTCCAAAAAAATTAAAAAGTCATTATTTTAACCATTATTTGATGTCTAAATCTCATTTGTAATATGCCAGGTAAGTAATCAGTTCACCTAGAATATTTCCATTGACTAGAGACTGTACCATTTCCTGAGACAGCATGTTTCACATTTGGATGATTTTATTATTTATTTATGTATTTGAGACGGAGTTGCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCAGGATCTTGGCTTACTGCAACCCCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCATCATGCCCAGCTGGTTTTAGTATTTTTATTGGAGATAGGGTTTCACCAGGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTTGGTGATCCACCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGATGTGGCCACCACACCTGGTCTATTTTATTTTTATAATTAAAAAAAATTATGTGGAGACAGGGTCTTGCTGTGTTTCCCAGGCTGGTCTCAAACTCCCAATCTCAAGTGATCTTCCTGCCTCAACCTCCCAAAGCACTGGGATTATAGGCATGAGCCACTGCACCTGGCCTTATTATTTTAACAGATTTTTAAATTTTAACATACCTACTTCCAGAAATAATTTTAGGCTTGGCTTGCAAGCCCCTTGAGTGGCTGGAGTTCAAGTGGTATTCACTGCTGGTTTTCTCCTAGTCCTTGACTCCCCAGTGGCCTGGCATGGGCGCTGTTGAGAGAGGGGCACTTTTGAAGTGGCCCGTGGAGCTCAAGGCAGGGCTGAACCCTCTGCCTGCTCCGCTTCAGGCCTCTGGCCCCTGGATGCTGAGCTGCTGCTGCTTCCTGTCAACACAGACTCTTCTGTGGATGCTACAGCAGCCAGACCTCCCTGGCACCCCCCACACCTAGAACGATATGTTCAGAACATAAAAGAATATAGTCATTAGTAGAGGTGAAAACAGGTTCTTAGAGTGAAGTGTGTTCCTCAGGAAATCAGCTTCACTCCCCAGCACCTGGCTTCCCTGGTTCTTTCTGGATGAAGAAAGACCTTTACCCTACACGTTGGAAGTATAGGTGAGCATCTCTTAATTAAAGCTACCATTTGAGAGGAATATAGCAAATCCTCAATACCTAACTAGCAGAACAGTGAGACTCTTTTGTGAAGTTCACACATGACCAGATGATGTGATGATACAGGGTAAGGCCAACAGGCCCTGTGCCTTGAAGCTTCTTTGCATATCGGTCCCTCCAGAGGTGGCTGCTGTACACTTTCCGCAACTGGTTTGCCATCGCATTTCAGCTCCAGCTGCATCTGAGAACACTCAAATGTCTCTTTAGGTCTTTTTAAAAAATTGTGATTAAAGATAACATAAAATGTATCATGTTAACTATTCTTATGTGTACAGTTCAGTAGTGTTAAATGTGTTCACATTGTTGTGAAACAGATCTCTAGAATTTTTCATCTTACAAACCTGAAACTCTGTCCCCATTTAACAACTCCGCCTTTATCCTCCCCCTAGGCCTTGGCAGCCACTATTCTACTTTCTGTCTATGAATTGGCTACTTTAGATATGTCATATAAATGGAATTATGCAGTATTCGTCTTTCTGTAATTGGCTTATTTCACTCAGCATAATGTCGTCAAAGTTCATTCATGTTGCAATGTATGACAAGATTTCCTTTCCTTTTAAAGGCTGAATAATAATCTGTGATATATATTCACAAACACATACACACACACACACACACACACCCCCACAGTTTATCTGTTCTTCTGTTGATGGACACTTGGGTTGCTTCCACCTCTTGGCTATTAAGAATAGTGCTGTTGG-A Joubert syndrome 30 Uncertain significance (Jan 07, 2019)636278
2-231206193-T-C Benign (May 04, 2021)1226717
2-231206246-A-G Uncertain significance (Jan 10, 2025)3672397
2-231206248-A-G ARMC9-related disorder Benign (Jan 15, 2025)727719
2-231206251-C-A Uncertain significance (Jan 16, 2022)1962484
2-231206251-C-G Inborn genetic diseases Uncertain significance (Nov 18, 2024)967189
2-231206254-G-C Uncertain significance (Sep 06, 2022)2105406
2-231206257-C-T Uncertain significance (Feb 21, 2022)1949383
2-231206263-T-C Uncertain significance (Jan 24, 2022)1700532
2-231206273-T-C Uncertain significance (Sep 27, 2022)1716787
2-231206294-G-T Familial aplasia of the vermis • ARMC9-related Joubert syndrome • Joubert syndrome 30 Conflicting classifications of pathogenicity (Mar 25, 2024)427931
2-231206296-A-G Likely benign (Jun 16, 2024)3607962
2-231206297-T-A Likely benign (Feb 23, 2024)1905042
2-231206304-C-G Likely benign (Feb 24, 2024)1912626
2-231206309-C-T Likely benign (Nov 19, 2024)1899300
2-231208109-A-C Benign (Nov 28, 2024)1168970
2-231208109-ATTAT-A Likely benign (Feb 24, 2024)2007025
2-231208116-A-T Likely benign (Oct 01, 2021)1606945
2-231208150-A-G Likely benign (Nov 29, 2022)2013108
2-231208151-G-C Inborn genetic diseases Uncertain significance (Jan 04, 2024)2241680
2-231208175-G-T Joubert syndrome 30 Pathogenic (Apr 20, 2018)1034090
2-231208185-T-C Uncertain significance (Aug 21, 2022)1410572
2-231208199-T-C Benign (Feb 03, 2025)1167998
2-231208212-T-G Uncertain significance (Oct 24, 2022)1473481
2-231208216-C-T Benign (Feb 03, 2025)1170309

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ARMC9protein_codingprotein_codingENST00000349938 20176289
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
6.20e-170.1791256630851257480.000338
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8513333800.8770.00002164355
Missense in Polyphen106139.740.758551576
Synonymous0.1881501530.9810.000009121254
Loss of Function1.293038.60.7760.00000182483

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007840.000782
Ashkenazi Jewish0.000.00
East Asian0.0004910.000489
Finnish0.00004620.0000462
European (Non-Finnish)0.0005310.000378
Middle Eastern0.0004910.000489
South Asian0.0004620.000425
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Required for ciliogenesis. {ECO:0000250|UniProtKB:E7F187}.;
Disease
DISEASE: Joubert syndrome 30 (JBTS30) [MIM:617622]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS30 inheritance is autosomal recessive. {ECO:0000269|PubMed:28625504}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Recessive Scores

pRec
0.243

Intolerance Scores

loftool
0.927
rvis_EVS
0.25
rvis_percentile_EVS
69.62

Haploinsufficiency Scores

pHI
0.347
hipred
N
hipred_score
0.348
ghis
0.463

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.380

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Armc9
Phenotype

Zebrafish Information Network

Gene name
armc9
Affected structure
photoreceptor cell
Phenotype tag
abnormal
Phenotype quality
decreased length

Gene ontology

Biological process
cilium assembly
Cellular component
cytoplasm;ciliary basal body;extracellular exosome
Molecular function