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NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) AND Spastic ataxia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 12, 2021
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:
RCV001640260.1

Allele description [Variation Report for NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)]

NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)

Gene:
ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q14.3
Genomic location:
Preferred name:
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)
HGVS:
  • NC_000013.11:g.51964996_51964997del
  • NG_008806.1:g.51499_51500del
  • NM_000053.4:c.1745_1746delMANE SELECT
  • NM_001005918.3:c.1745_1746del
  • NM_001243182.2:c.1412_1413del
  • NM_001330578.2:c.1745_1746del
  • NM_001330579.2:c.1745_1746del
  • NP_000044.2:p.Ile582fs
  • NP_001005918.1:p.Ile582fs
  • NP_001230111.1:p.Ile471fs
  • NP_001317507.1:p.Ile582fs
  • NP_001317508.1:p.Ile582fs
  • NC_000013.10:g.52539131_52539132del
  • NC_000013.10:g.52539132_52539133del
  • NC_000013.11:g.51964995_51964996delTA
  • NM_000053.3:c.1745_1746del
  • NM_000053.3:c.1745_1746delTA
  • NM_000053.4:c.1745_1746delTAMANE SELECT
  • p.Ile582Argfs*25
Protein change:
I471fs
Links:
dbSNP: rs753962912
NCBI 1000 Genomes Browser:
rs753962912
Molecular consequence:
  • NM_000053.4:c.1745_1746del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001005918.3:c.1745_1746del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001243182.2:c.1412_1413del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330578.2:c.1745_1746del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330579.2:c.1745_1746del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Spastic ataxia
Identifiers:
MONDO: MONDO:0017845; MedGen: C1849156; OMIM: PS108600; Human Phenotype Ontology: HP:0002497

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001519282Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 12, 2021) 		unknownresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

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 Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, SCV001519282.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024