NM_001195248.2(APTX):c.484-25_484-4del AND Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

Germline classification:: Benign (2 submissions)
Last evaluated:: Nov 29, 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:: RCV000601113.14

Allele description [Variation Report for NM_001195248.2(APTX):c.484-25_484-4del]

NM_001195248.2(APTX):c.484-25_484-4del

Gene:

APTX:aprataxin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9p21.1

Genomic location:

Preferred name:

NM_001195248.2(APTX):c.484-25_484-4del

HGVS:

NC_000009.11:g.32986032_32986053del
NC_000009.12:g.32986043_32986064del
NG_012821.2:g.44077_44098del
NM_001195248.2:c.484-25_484-4delMANE SELECT
NM_001195249.2:c.484-25_484-4del
NM_001195250.2:c.322-25_322-4del
NM_001195251.2:c.484-25_484-4del
NM_001195252.2:c.268-25_268-4del
NM_001195254.2:c.322-25_322-4del
NM_001368995.1:c.484-25_484-4del
NM_001368996.1:c.484-25_484-4del
NM_001368997.1:c.484-25_484-4del
NM_001368998.1:c.484-25_484-4del
NM_001368999.1:c.484-25_484-4del
NM_001369000.1:c.322-25_322-4del
NM_001369001.1:c.322-25_322-4del
NM_001369002.1:c.220-25_220-4del
NM_001369003.1:c.220-25_220-4del
NM_001369004.1:c.220-25_220-4del
NM_001369005.1:c.220-25_220-4del
NM_001369006.1:c.220-25_220-4del
NM_001370669.1:c.220-25_220-4del
NM_001370670.1:c.220-25_220-4del
NM_001370673.1:c.220-25_220-4del
NM_175069.3:c.484-25_484-4del
NM_175073.3:c.484-25_484-4del
NC_000009.11:g.32986032_32986053del
NC_000009.11:g.32986041_32986062del
NC_000009.11:g.32986041_32986062del
NC_000009.11:g.32986041_32986062delCAAAAAAAAAAACAAAAAAAAA
NM_001195249.1:c.484-25_484-4delGTTTTTTTTTTTGTTTTTTTTT

Links:

dbSNP: rs778542759

NCBI 1000 Genomes Browser:

rs778542759

Molecular consequence:

NM_001195248.2:c.484-25_484-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001195249.2:c.484-25_484-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001195250.2:c.322-25_322-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001195251.2:c.484-25_484-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001195252.2:c.268-25_268-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001195254.2:c.322-25_322-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368995.1:c.484-25_484-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368996.1:c.484-25_484-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368997.1:c.484-25_484-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368998.1:c.484-25_484-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001368999.1:c.484-25_484-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369000.1:c.322-25_322-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369001.1:c.322-25_322-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369002.1:c.220-25_220-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369003.1:c.220-25_220-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369004.1:c.220-25_220-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369005.1:c.220-25_220-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369006.1:c.220-25_220-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001370669.1:c.220-25_220-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001370670.1:c.220-25_220-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001370673.1:c.220-25_220-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_175069.3:c.484-25_484-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_175073.3:c.484-25_484-4del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Synonyms:: Ataxia-oculomotor apraxia syndrome; Ataxia-telangiectasia-like syndrome; Early-onset cerebellar ataxia with hypoalbuminemia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008842; MedGen: C1859598; Orphanet: 1168; OMIM: 208920

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C7orf70 (0)
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Tssr127684 AND (alive[prop]) (0)
Gene
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Hyperinsulinemic hypoglycemia, familial, 2

MedGen
C2931833[conceptid] (1)
MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000734694	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Benign	germline	clinical testing
SCV001156851	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Nov 29, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000734694

Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus

no assertion criteria provided

Benign

germline

clinical testing

SCV001156851

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Nov 29, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000734694.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001156851.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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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