VCV000031058.3 - ClinVar

NM_018075.5(ANO10):c.1150_1151del (p.Leu384fs)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(2)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic

criteria provided, single submitter

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_018075.5(ANO10):c.1150_1151del (p.Leu384fs)

Variation ID: 31058 Accession: VCV000031058.3

Type and length

Deletion, 2 bp

Location

Cytogenetic: 3p22.1 3: 43576703-43576704 (GRCh38) [ NCBI UCSC ] 3: 43618195-43618196 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Nov 28, 2020	Jan 8, 2022	Oct 23, 2020

HGVS

Nucleotide	Protein	Molecular consequence
NM_018075.5:c.1150_1151del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_060545.3:p.Leu384fs	frameshift
NM_001204831.3:c.1150_1151del	NP_001191760.1:p.Leu384fs	frameshift
NM_001204832.3:c.952_953del	NP_001191761.1:p.Leu318fs	frameshift
NM_001204833.3:c.817_818del	NP_001191762.1:p.Leu273fs	frameshift
NM_001204834.3:c.593-1840_593-1839del		intron variant
NM_001346463.2:c.1150_1151del	NP_001333392.1:p.Leu384fs	frameshift
NM_001346464.2:c.1150_1151del	NP_001333393.1:p.Leu384fs	frameshift
NM_001346465.2:c.1150_1151del	NP_001333394.1:p.Leu384fs	frameshift
NM_001346466.2:c.952_953del	NP_001333395.1:p.Leu318fs	frameshift
NM_001346467.2:c.1150_1151del	NP_001333396.1:p.Leu384fs	frameshift
NM_001346468.2:c.1150_1151del	NP_001333397.1:p.Leu384fs	frameshift
NM_001346469.2:c.952_953del	NP_001333398.1:p.Leu318fs	frameshift
NC_000003.12:g.43576706_43576707del
NC_000003.11:g.43618198_43618199del
NG_028216.2:g.119891_119892del

... more HGVS ... less HGVS

Protein change

L318fs, L384fs, L273fs

Other names

Canonical SPDI

NC_000003.12:43576702:AAAAA:AAA

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA129640 OMIM: 613726.0002 dbSNP: rs794726680 VarSome

Comment on variant

NCBI staff reviewed the sequence information reported in PubMed 21092923 to determine the location of this allele on the current reference sequence.

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
ANO10		-	-	GRCh38 GRCh37	475	539

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Autosomal recessive spinocerebellar ataxia 10	Pathogenic (1)	no assertion criteria provided	Dec 10, 2010	RCV000024052.6
not provided	Pathogenic (1)	criteria provided, single submitter	Oct 23, 2020	RCV001268891.2

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Oct 23, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided (Unknown mechanism) Affected status: yes Allele origin: germline	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen Accession: SCV001448131.1 First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020	Clinical Features: Oculomotor apraxia (present) , Cerebellar ataxia (present) , Cerebellar atrophy (present) , Global developmental delay (present) Sex: male
Pathogenic (Dec 10, 2010)	no assertion criteria provided Method: literature only	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 Affected status: not provided Allele origin: germline	OMIM Accession: SCV000045343.5 First in ClinVar: Apr 04, 2013 Last updated: Jan 08, 2022	Publications: PubMed (1) PubMed: 21092923 Comment on evidence: In 3 affected sibs of a consanguineous family of Romani origin from Serbia with autosomal recessive spinocerebellar ataxia-10 (SCAR10; 613728), Vermeer et al. (2010) identified … (more) In 3 affected sibs of a consanguineous family of Romani origin from Serbia with autosomal recessive spinocerebellar ataxia-10 (SCAR10; 613728), Vermeer et al. (2010) identified a homozygous 2-bp deletion (1150delTT) in the ANO10 gene, predicted to result in a frameshift and premature termination in exon 6. (less)

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.	Vermeer S	American journal of human genetics	2010	PMID: 21092923

Text-mined citations for rs794726680 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 23, 2024

ClinVar Genomic variation as it relates to human health

NM_018075.5(ANO10):c.1150_1151del (p.Leu384fs)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs794726680 ...