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NM_001195248.2(APTX):c.587dup (p.Ala198fs) AND Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 7, 2022
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:
RCV001814648.1

Allele description [Variation Report for NM_001195248.2(APTX):c.587dup (p.Ala198fs)]

NM_001195248.2(APTX):c.587dup (p.Ala198fs)

Gene:
APTX:aprataxin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9p21.1
Genomic location:
Preferred name:
NM_001195248.2(APTX):c.587dup (p.Ala198fs)
HGVS:
  • NC_000009.12:g.32984816dup
  • NG_012821.2:g.45318dup
  • NM_001195248.2:c.587dupMANE SELECT
  • NM_001195249.2:c.587dup
  • NM_001195250.2:c.425dup
  • NM_001195251.2:c.587dup
  • NM_001195252.2:c.371dup
  • NM_001195254.2:c.425dup
  • NM_001368995.1:c.587dup
  • NM_001368996.1:c.587dup
  • NM_001368997.1:c.587dup
  • NM_001368998.1:c.587dup
  • NM_001368999.1:c.587dup
  • NM_001369000.1:c.425dup
  • NM_001369001.1:c.425dup
  • NM_001369002.1:c.323dup
  • NM_001369003.1:c.323dup
  • NM_001369004.1:c.323dup
  • NM_001369005.1:c.323dup
  • NM_001369006.1:c.323dup
  • NM_001370669.1:c.323dup
  • NM_001370670.1:c.323dup
  • NM_001370673.1:c.323dup
  • NM_175069.3:c.587dup
  • NM_175073.3:c.587dup
  • NP_001182177.2:p.Ala198fs
  • NP_001182178.1:p.Ala198fs
  • NP_001182179.2:p.Ala144fs
  • NP_001182180.1:p.Ala198fs
  • NP_001182181.2:p.Ala126fs
  • NP_001182183.1:p.Ala144fs
  • NP_001355924.1:p.Ala198fs
  • NP_001355925.1:p.Ala198fs
  • NP_001355926.1:p.Ala198fs
  • NP_001355927.1:p.Ala198fs
  • NP_001355928.1:p.Ala198fs
  • NP_001355929.1:p.Ala144fs
  • NP_001355930.1:p.Ala144fs
  • NP_001355931.1:p.Ala110fs
  • NP_001355932.1:p.Ala110fs
  • NP_001355933.1:p.Ala110fs
  • NP_001355934.1:p.Ala110fs
  • NP_001355935.1:p.Ala110fs
  • NP_001357598.1:p.Ala110fs
  • NP_001357599.1:p.Ala110fs
  • NP_001357602.1:p.Ala110fs
  • NP_778239.2:p.Ala198fs
  • NP_778243.1:p.Ala198fs
  • NC_000009.11:g.32984814dup
  • NM_001195248.2:c.587dupCMANE SELECT
  • NR_036577.2:n.538dup
  • NR_160921.1:n.557dup
  • NR_160922.1:n.788dup
  • NR_160923.1:n.592dup
  • NR_160924.1:n.597dup
  • NR_160925.1:n.793dup
  • NR_160926.1:n.583dup
  • NR_160930.1:n.533dup
  • NR_160931.1:n.772dup
Protein change:
A110fs
Links:
dbSNP: rs2118686800
NCBI 1000 Genomes Browser:
rs2118686800
Molecular consequence:
  • NM_001195248.2:c.587dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195249.2:c.587dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195250.2:c.425dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195251.2:c.587dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195252.2:c.371dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195254.2:c.425dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368995.1:c.587dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368996.1:c.587dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368997.1:c.587dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368998.1:c.587dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368999.1:c.587dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369000.1:c.425dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369001.1:c.425dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369002.1:c.323dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369003.1:c.323dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369004.1:c.323dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369005.1:c.323dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369006.1:c.323dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370669.1:c.323dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370670.1:c.323dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001370673.1:c.323dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_175069.3:c.587dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_175073.3:c.587dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_036577.2:n.538dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160921.1:n.557dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160922.1:n.788dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160923.1:n.592dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160924.1:n.597dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160925.1:n.793dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160926.1:n.583dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160930.1:n.533dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160931.1:n.772dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002061376Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 7, 2022) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot providednot providednot providedresearch
Caucasiangermlineno1not providednot providednot providednot providedresearch

Citations

PubMed

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.

Vural A, Şimşir G, Tekgül Ş, Koçoğlu C, Akçimen F, Kartal E, Şen NE, Lahut S, Ömür Ö, Saner N, Gül T, Bayraktar E, Palvadeau R, Tunca C, Pirkevi Çetinkaya C, Gündoğdu Eken A, Şahbaz I, Kovancılar Koç M, Öztop Çakmak Ö, Hanağası H, Bilgiç B, Eraksoy M, et al.

Mov Disord. 2021 Jul;36(7):1676-1688. doi: 10.1002/mds.28518. Epub 2021 Feb 24.

PubMed [citation]
PMID:
33624863

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University, SCV002061376.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedresearch PubMed (2)
2Caucasian1not providednot providedresearch PubMed (2)

Description

This variant is compound heterozygous with NM_001195248.2:c.593C>T in one patient

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlinenonot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023