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NM_001128164.2(ATXN1):c.-160-39282_-160-39238del AND Schizophrenia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 11, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002463487.1

Allele description [Variation Report for NM_001128164.2(ATXN1):c.-160-39282_-160-39238del]

NM_001128164.2(ATXN1):c.-160-39282_-160-39238del

Gene:
ATXN1:ataxin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p22.3
Genomic location:
Preferred name:
NM_001128164.2(ATXN1):c.-160-39282_-160-39238del
HGVS:
  • NC_000006.12:g.16367708_16367752del
  • NG_011571.1:g.398739_398783del
  • NM_000332.4:c.-160-39282_-160-39238del
  • NM_001128164.2:c.-160-39282_-160-39238delMANE SELECT
  • NM_001357857.2:c.-189-39282_-189-39238del
  • LRG_863:g.398739_398783del
  • NC_000006.11:g.16367939_16367983del
Molecular consequence:
  • NM_000332.4:c.-160-39282_-160-39238del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128164.2:c.-160-39282_-160-39238del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001357857.2:c.-189-39282_-189-39238del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Schizophrenia (SCZD)
Identifiers:
MONDO: MONDO:0005090; MeSH: D012559; MedGen: C0036341; OMIM: 181500; Human Phenotype Ontology: HP:0100753

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002757915Department of Psychiatry, The University of Hong Kong
no assertion criteria provided

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 11, 2022) 		unknowncase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedcase-control

Citations

PMC

XML Exception at /pubmed_gen/rbuild/version/20240318/cidx/2.10.1/src/internal/txxmldoc/XmlDocument.cpp(353): code=4, XML: Conversion failed

Details of each submission

From Department of Psychiatry, The University of Hong Kong, SCV002757915.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024