NM_018075.5(ANO10):c.1029del (p.Leu344fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 3, 2023
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:: RCV003543288.2

Allele description [Variation Report for NM_018075.5(ANO10):c.1029del (p.Leu344fs)]

NM_018075.5(ANO10):c.1029del (p.Leu344fs)

Gene:

ANO10:anoctamin 10 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p22.1

Genomic location:

Preferred name:

NM_018075.5(ANO10):c.1029del (p.Leu344fs)

HGVS:

NC_000003.12:g.43576826del
NG_028216.2:g.119770del
NM_001204831.3:c.1029del
NM_001204832.3:c.831del
NM_001204833.3:c.696del
NM_001204834.3:c.593-1961del
NM_001346463.2:c.1029del
NM_001346464.2:c.1029del
NM_001346465.2:c.1029del
NM_001346466.2:c.831del
NM_001346467.2:c.1029del
NM_001346468.2:c.1029del
NM_001346469.2:c.831del
NM_018075.5:c.1029delMANE SELECT
NP_001191760.1:p.Leu344fs
NP_001191761.1:p.Leu278fs
NP_001191762.1:p.Leu233fs
NP_001333392.1:p.Leu344fs
NP_001333393.1:p.Leu344fs
NP_001333394.1:p.Leu344fs
NP_001333395.1:p.Leu278fs
NP_001333396.1:p.Leu344fs
NP_001333397.1:p.Leu344fs
NP_001333398.1:p.Leu278fs
NP_060545.3:p.Leu344fs
NC_000003.11:g.43618317del
NC_000003.11:g.43618318del

Protein change:

L233fs

Molecular consequence:

NM_001204831.3:c.1029del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001204832.3:c.831del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001204833.3:c.696del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001346463.2:c.1029del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001346464.2:c.1029del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001346465.2:c.1029del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001346466.2:c.831del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001346467.2:c.1029del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001346468.2:c.1029del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001346469.2:c.831del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018075.5:c.1029del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001204834.3:c.593-1961del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004244995	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 3, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25089919, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004244995

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 3, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.

Renaud M, Anheim M, Kamsteeg EJ, Mallaret M, Mochel F, Vermeer S, Drouot N, Pouget J, Redin C, Salort-Campana E, Kremer HP, Verschuuren-Bemelmans CC, Muller J, Scheffer H, Durr A, Tranchant C, Koenig M.

JAMA Neurol. 2014 Oct;71(10):1305-10. doi: 10.1001/jamaneurol.2014.193.

PubMed [citation]

PMID:: 25089919

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004244995.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Leu344Trpfs*26) in the ANO10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ANO10 are known to be pathogenic (PMID: 25089919). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ANO10-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	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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