NM_018075.5(ANO10):c.788G>A (p.Arg263His) AND Autosomal recessive spinocerebellar ataxia 10

Germline classification:: Benign (1 submission)
Last evaluated:: Apr 27, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001147923.4

Allele description [Variation Report for NM_018075.5(ANO10):c.788G>A (p.Arg263His)]

NM_018075.5(ANO10):c.788G>A (p.Arg263His)

Gene:

ANO10:anoctamin 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p22.1

Genomic location:

Preferred name:

NM_018075.5(ANO10):c.788G>A (p.Arg263His)

HGVS:

NC_000003.12:g.43577066C>T
NG_028216.2:g.119529G>A
NM_001204831.3:c.788G>A
NM_001204832.3:c.590G>A
NM_001204833.3:c.455G>A
NM_001204834.3:c.593-2202G>A
NM_001346463.2:c.788G>A
NM_001346464.2:c.788G>A
NM_001346465.2:c.788G>A
NM_001346466.2:c.590G>A
NM_001346467.2:c.788G>A
NM_001346468.2:c.788G>A
NM_001346469.2:c.590G>A
NM_018075.5:c.788G>AMANE SELECT
NP_001191760.1:p.Arg263His
NP_001191761.1:p.Arg197His
NP_001191762.1:p.Arg152His
NP_001333392.1:p.Arg263His
NP_001333393.1:p.Arg263His
NP_001333394.1:p.Arg263His
NP_001333395.1:p.Arg197His
NP_001333396.1:p.Arg263His
NP_001333397.1:p.Arg263His
NP_001333398.1:p.Arg197His
NP_060545.3:p.Arg263His
NC_000003.11:g.43618558C>T
NC_000003.11:g.43618558C>T
NM_018075.3:c.788G>A

Protein change:

R152H

Links:

dbSNP: rs41289586

NCBI 1000 Genomes Browser:

rs41289586

Molecular consequence:

NM_001204834.3:c.593-2202G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001204831.3:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001204832.3:c.590G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001204833.3:c.455G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001346463.2:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001346464.2:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001346465.2:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001346466.2:c.590G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001346467.2:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001346468.2:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001346469.2:c.590G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_018075.5:c.788G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive spinocerebellar ataxia 10
Identifiers:: MONDO: MONDO:0013392; MedGen: C3150998; Orphanet: 284289; OMIM: 613728

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001308780	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Benign (Apr 27, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25730773, 27270446, 27091155 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001308780

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Benign
(Apr 27, 2017)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Coding Variant of ANO10, Affecting Volume Regulation of Macrophages, Is Associated with Borrelia Seropositivity.

Hammer C, Wanitchakool P, Sirianant L, Papiol S, Monnheimer M, Faria D, Ousingsawat J, Schramek N, Schmitt C, Margos G, Michel A, Kraiczy P, Pawlita M, Schreiber R, Schulz TF, Fingerle V, Tumani H, Ehrenreich H, Kunzelmann K.

Mol Med. 2015 Feb 23;21:26-37. doi: 10.2119/molmed.2014.00219.

PubMed [citation]

PMID:: 25730773
PMCID:: PMC4461583

Cl(-) channels in apoptosis.

Wanitchakool P, Ousingsawat J, Sirianant L, MacAulay N, Schreiber R, Kunzelmann K.

Eur Biophys J. 2016 Oct;45(7):599-610. Epub 2016 Jun 7.

PubMed [citation]

PMID:: 27270446

See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001308780.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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