ANO5
Basic information
Region (hg38): 11:21782658-22283567
Previous symbols: [ "TMEM16E", "LGMD2L" ]
Links
Phenotypes
GenCC
Source:
- autosomal recessive limb-girdle muscular dystrophy type 2L (Limited), mode of inheritance: AR
- gnathodiaphyseal dysplasia (Supportive), mode of inheritance: AD
- autosomal recessive limb-girdle muscular dystrophy type 2L (Supportive), mode of inheritance: AR
- gnathodiaphyseal dysplasia (Moderate), mode of inheritance: AD
- gnathodiaphyseal dysplasia (Strong), mode of inheritance: AD
- autosomal recessive limb-girdle muscular dystrophy type 2L (Strong), mode of inheritance: AR
- Miyoshi muscular dystrophy 3 (Strong), mode of inheritance: AR
- autosomal recessive limb-girdle muscular dystrophy (Definitive), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Gnathodiaphyseal dysplasia | AD | Allergy/Immunology/Infectious | Individuals have been reported as being frequently affected by osteomyelitis of the jaw, and awareness of the risk may allow early detection and management of lesions | Allergy/Immunology/Infectious; Musculoskeletal | 5816667; 9673985; 15124103; 17132147; 17008331; 20096397; 20692837; 21186264; 22951575; 21820307; 22402862; 22499103; 23047743 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (510 variants)
- Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L (475 variants)
- Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia (234 variants)
- ANO5-Related Muscle Diseases (135 variants)
- Limb-Girdle Muscular Dystrophy, Recessive (97 variants)
- Miyoshi myopathy (97 variants)
- Autosomal recessive limb-girdle muscular dystrophy type 2L (82 variants)
- not specified (59 variants)
- Gnathodiaphyseal dysplasia (58 variants)
- Miyoshi muscular dystrophy 3 (52 variants)
- Inborn genetic diseases (28 variants)
- ANO5-Related Disorders (9 variants)
- Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3 (7 variants)
- ANO5-related condition (7 variants)
- Autosomal recessive limb-girdle muscular dystrophy (7 variants)
- Myopathy (5 variants)
- Miyoshi muscular dystrophy 3;Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L (3 variants)
- Intellectual disability (3 variants)
- Abnormality of the musculature (3 variants)
- Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3;Gnathodiaphyseal dysplasia (3 variants)
- Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia;Miyoshi muscular dystrophy 3 (2 variants)
- Limb-girdle muscular dystrophy (2 variants)
- ANO5-related muscular dystrophy (1 variants)
- Elevated circulating creatine kinase concentration;Fatty replacement of skeletal muscle;Distal muscle weakness (1 variants)
- Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3 (1 variants)
- Muscular dystrophy (1 variants)
- Achilles tendon contracture;Elevated circulating creatine kinase concentration;Polycystic kidney disease;Lower limb amyotrophy;Lower limb muscle weakness (1 variants)
- Hereditary fructosuria (1 variants)
- Elevated circulating creatine kinase concentration (1 variants)
- Fatty replacement of skeletal muscle;Distal muscle weakness;Elevated circulating creatine kinase concentration (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANO5 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 | 14 | 95 | 111 | |||
missense | 14 | 402 | 429 | |||
nonsense | 36 | 12 | 49 | |||
start loss | 1 | |||||
frameshift | 28 | 39 | ||||
inframe indel | 7 | |||||
splice donor/acceptor (+/-2bp) | 19 | 28 | ||||
splice region ? | 2 | 1 | 47 | 29 | 1 | 80 |
non coding ? | 68 | 129 | 59 | 256 | ||
Total | 75 | 52 | 499 | 231 | 63 |
Highest pathogenic variant AF is 0.000118
Variants in ANO5
This is a list of pathogenic ClinVar variants found in the ANO5 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-22192586-C-G | Uncertain significance (Apr 01, 2022) | |||
11-22193232-A-C | Miyoshi myopathy • Limb-Girdle Muscular Dystrophy, Recessive • ANO5-Related Muscle Diseases | Conflicting classifications of pathogenicity (Jul 15, 2018) | ||
11-22193242-T-G | ANO5-Related Muscle Diseases | Uncertain significance (Jan 13, 2018) | ||
11-22193276-G-T | Miyoshi myopathy • Limb-Girdle Muscular Dystrophy, Recessive • ANO5-Related Muscle Diseases • Gnathodiaphyseal dysplasia • Miyoshi muscular dystrophy 3 • Autosomal recessive limb-girdle muscular dystrophy type 2L | Benign/Likely benign (Dec 05, 2021) | ||
11-22193283-G-C | Limb-Girdle Muscular Dystrophy, Recessive • Miyoshi myopathy • ANO5-Related Muscle Diseases | Uncertain significance (Jan 13, 2018) | ||
11-22193292-C-A | ANO5-Related Muscle Diseases | Uncertain significance (Jan 13, 2018) | ||
11-22193299-G-T | Limb-Girdle Muscular Dystrophy, Recessive • Miyoshi myopathy • ANO5-Related Muscle Diseases | Uncertain significance (Jan 12, 2018) | ||
11-22193331-A-G | Limb-Girdle Muscular Dystrophy, Recessive • Miyoshi myopathy • ANO5-Related Muscle Diseases | Uncertain significance (Jan 13, 2018) | ||
11-22193331-A-AAGGAGGAGGGGAATGAGGAGGAGG | Miyoshi myopathy • Limb-Girdle Muscular Dystrophy, Recessive • Gnathodiaphyseal dysplasia | Benign (May 28, 2019) | ||
11-22193357-G-C | Limb-Girdle Muscular Dystrophy, Recessive • Miyoshi myopathy • not specified • ANO5-Related Muscle Diseases • Miyoshi muscular dystrophy 3 • Autosomal recessive limb-girdle muscular dystrophy type 2L • Gnathodiaphyseal dysplasia | Benign (Jul 14, 2021) | ||
11-22193428-G-C | Miyoshi myopathy • Limb-Girdle Muscular Dystrophy, Recessive • ANO5-Related Muscle Diseases | Uncertain significance (Jan 13, 2018) | ||
11-22193476-T-TTAACGAGCTGGCGAAGA | Uncertain significance (May 25, 2017) | |||
11-22193492-G-A | Uncertain significance (Dec 10, 2020) | |||
11-22193498-C-T | Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance (Jun 06, 2021) | ||
11-22193503-C-A | Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance (Feb 22, 2022) | ||
11-22193503-C-G | Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance (Mar 08, 2022) | ||
11-22193503-C-T | Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance (Mar 17, 2023) | ||
11-22193505-G-A | Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia • Inborn genetic diseases | Conflicting classifications of pathogenicity (Nov 19, 2023) | ||
11-22193508-C-T | Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia | Uncertain significance (May 05, 2023) | ||
11-22193510-C-T | Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L | Conflicting classifications of pathogenicity (Jul 11, 2022) | ||
11-22193511-C-T | Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia | Conflicting classifications of pathogenicity (Jan 18, 2024) | ||
11-22193514-G-A | Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia | Uncertain significance (Jun 04, 2022) | ||
11-22193514-G-C | Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia | Uncertain significance (Mar 26, 2021) | ||
11-22193514-G-T | Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L | Pathogenic (Oct 17, 2021) | ||
11-22193523-G-A | Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L | Uncertain significance (Oct 10, 2018) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ANO5 | protein_coding | protein_coding | ENST00000324559 | 22 | 90182 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
2.85e-22 | 0.312 | 125318 | 3 | 426 | 125747 | 0.00171 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.117 | 467 | 474 | 0.985 | 0.0000239 | 6040 |
Missense in Polyphen | 168 | 181.52 | 0.92553 | 2417 | ||
Synonymous | -1.80 | 192 | 163 | 1.18 | 0.00000820 | 1635 |
Loss of Function | 1.86 | 42 | 57.2 | 0.734 | 0.00000328 | 657 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00254 | 0.00248 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000382 | 0.000381 |
Finnish | 0.000556 | 0.000554 |
European (Non-Finnish) | 0.00286 | 0.00282 |
Middle Eastern | 0.000382 | 0.000381 |
South Asian | 0.000490 | 0.000490 |
Other | 0.00181 | 0.00179 |
dbNSFP
Source:
- Function
- FUNCTION: Does not exhibit calcium-activated chloride channel (CaCC) activity. {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:23047743}.;
- Disease
- DISEASE: Limb-girdle muscular dystrophy 2L (LGMD2L) [MIM:611307]: An autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. {ECO:0000269|PubMed:20096397, ECO:0000269|PubMed:22499103, ECO:0000269|PubMed:25864073, ECO:0000269|PubMed:25891276}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Miyoshi muscular dystrophy 3 (MMD3) [MIM:613319]: A late- onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric. {ECO:0000269|PubMed:20096397, ECO:0000269|PubMed:22499103}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Stimuli-sensing channels;Ion channel transport;Transport of small molecules
(Consensus)
Recessive Scores
- pRec
- 0.117
Intolerance Scores
- loftool
- 0.971
- rvis_EVS
- 0.58
- rvis_percentile_EVS
- 82.34
Haploinsufficiency Scores
- pHI
- 0.110
- hipred
- N
- hipred_score
- 0.329
- ghis
- 0.486
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.261
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ano5
- Phenotype
- cellular phenotype; homeostasis/metabolism phenotype; muscle phenotype; reproductive system phenotype;
Gene ontology
- Biological process
- chloride transport;ion transmembrane transport
- Cellular component
- endoplasmic reticulum membrane;plasma membrane;integral component of membrane;vesicle
- Molecular function
- intracellular calcium activated chloride channel activity;protein dimerization activity