ANO10

anoctamin 10, the group of Anoctamins

Basic information

Region (hg38): 3:43354858-43691594

Previous symbols: [ "TMEM16K" ]

Links

ENSG00000160746 ∙ NCBI:55129 ∙ OMIM:613726 ∙ HGNC:25519 ∙ Uniprot:Q9NW15 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• autosomal recessive spinocerebellar ataxia 10 (Moderate), mode of inheritance: AR
• autosomal recessive spinocerebellar ataxia 10 (Strong), mode of inheritance: AR
• autosomal recessive spinocerebellar ataxia 10 (Supportive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spinocerebellar ataxia, autosomal recessive 10	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Neurologic	21092923; 22008874

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANO10 gene.

• not provided (190 variants)
• Autosomal recessive spinocerebellar ataxia 10 (94 variants)
• not specified (27 variants)
• Inborn genetic diseases (17 variants)
• Autosomal recessive cerebellar ataxia (5 variants)
• Abnormal central motor function (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANO10 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	31	2	41
missense		3	61	5	4	73
nonsense	5	3				8
start loss		2				2
frameshift	10	4	2			16
inframe indel			2			2
splice donor/acceptor (+/-2bp)	5	5				10
splice region		1	2	10	4	17
non coding		1	24	14	38	77
Total	20	18	97	50	44

Highest pathogenic variant AF is 0.0000855

Variants in ANO10

This is a list of pathogenic ClinVar variants found in the ANO10 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-43366337-A-G		Autosomal recessive spinocerebellar ataxia 10	Uncertain significance (Jan 13, 2018)
3-43366442-G-A		Autosomal recessive cerebellar ataxia	Uncertain significance (Jun 14, 2016)
3-43366454-T-C		Autosomal recessive spinocerebellar ataxia 10	Uncertain significance (Jan 12, 2018)
3-43366459-C-T		Autosomal recessive spinocerebellar ataxia 10	Conflicting classifications of pathogenicity (Jul 01, 2023)
3-43366462-G-A		Autosomal recessive spinocerebellar ataxia 10	Benign (Jan 13, 2018)
3-43366468-T-A		Autosomal recessive spinocerebellar ataxia 10	Uncertain significance (Jan 12, 2018)
3-43366474-C-A		Autosomal recessive spinocerebellar ataxia 10	Benign (Jan 13, 2018)
3-43366488-A-G		Autosomal recessive spinocerebellar ataxia 10	Uncertain significance (Jan 13, 2018)
3-43366534-C-A		Autosomal recessive spinocerebellar ataxia 10	Uncertain significance (Jan 13, 2018)
3-43366538-G-A		Autosomal recessive spinocerebellar ataxia 10	Uncertain significance (Jan 13, 2018)
3-43366660-T-C		Autosomal recessive spinocerebellar ataxia 10	Benign/Likely benign (Jun 19, 2021)
3-43366669-C-G		Autosomal recessive spinocerebellar ataxia 10	Uncertain significance (Jan 13, 2018)
3-43366710-G-T		Autosomal recessive spinocerebellar ataxia 10	Benign (May 19, 2021)
3-43366727-G-A		Autosomal recessive spinocerebellar ataxia 10	Conflicting classifications of pathogenicity (May 11, 2021)
3-43366741-C-T		Autosomal recessive spinocerebellar ataxia 10	Uncertain significance (Jan 12, 2018)
3-43366742-G-A		Autosomal recessive spinocerebellar ataxia 10	Uncertain significance (Jan 13, 2018)
3-43366815-C-T		Autosomal recessive spinocerebellar ataxia 10	Uncertain significance (Jan 13, 2018)
3-43366824-C-T		Autosomal recessive spinocerebellar ataxia 10	Uncertain significance (Jan 12, 2018)
3-43366831-A-AC		Autosomal recessive cerebellar ataxia	Uncertain significance (Jun 14, 2016)
3-43366896-C-T			Uncertain significance (Jan 27, 2023)
3-43366927-G-A			Likely benign (May 02, 2023)
3-43366935-T-C		Autosomal recessive spinocerebellar ataxia 10 • not specified • ANO10-related disorder	Conflicting classifications of pathogenicity (Jan 26, 2024)
3-43366957-G-A			Likely benign (Jan 24, 2024)
3-43366963-G-A		ANO10-related disorder	Likely benign (Jan 28, 2024)
3-43366966-C-T		Autosomal recessive spinocerebellar ataxia 10	Conflicting classifications of pathogenicity (Nov 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANO10	protein_coding	protein_coding	ENST00000292246	12	336736

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.02e-14	0.139	125663	0	85	125748	0.000338

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.317	327	344	0.952	0.0000176	4320
Missense in Polyphen		98	105.81	0.92622		1340
Synonymous	-0.953	145	131	1.11	0.00000691	1234
Loss of Function	0.986	25	30.9	0.809	0.00000137	419

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000626	0.000626
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000440	0.000440
Middle Eastern	0.000109	0.000109
South Asian	0.000401	0.000392
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1. {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:22946059}.
• Pathway: Stimuli-sensing channels;Ion channel transport;Transport of small molecules (Consensus)

Recessive Scores

• pRec: 0.0956

Intolerance Scores

• loftool: 0.872
• rvis_EVS: 0.96
• rvis_percentile_EVS: 90.15

Haploinsufficiency Scores

• pHI: 0.140
• hipred: N
• hipred_score: 0.237
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.171

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ano10
• Phenotype: hematopoietic system phenotype; digestive/alimentary phenotype; immune system phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: cation transport;chloride transport;ion transmembrane transport
• Cellular component: plasma membrane;membrane;integral component of membrane
• Molecular function: calcium activated cation channel activity;intracellular calcium activated chloride channel activity