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GRCh37/hg19 20p12.3(chr20:7106057-8085390)x3 AND Autism

Germline classification:
Uncertain significance (1 submission)
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:
RCV002285118.1

Allele description [Variation Report for GRCh37/hg19 20p12.3(chr20:7106057-8085390)x3]

GRCh37/hg19 20p12.3(chr20:7106057-8085390)x3

Genes:
HAO1:hydroxyacid oxidase 1 [Gene - OMIM - HGNC]
TMX4:thioredoxin related transmembrane protein 4 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
20p12.3
Genomic location:
Chr20: 7106057 - 8085390 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 20p12.3(chr20:7106057-8085390)x3
HGVS:

    Condition(s)

    Name:
    Autism (AUTS)
    Synonyms:
    Autistic disorder; Autistic disorder of childhood onset
    Identifiers:
    MONDO: MONDO:0005260; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002574760Cytogenetics, Genetics Associates, Inc.
    no assertion criteria provided
    		Uncertain significanceunknownclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From Cytogenetics, Genetics Associates, Inc., SCV002574760.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Oct 1, 2022