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GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 28, 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:
RCV002472645.1

Allele description [Variation Report for GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1]

GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1

Genes:
  • HTR7:5-hydroxytryptamine receptor 7 [Gene - OMIM - HGNC]
  • BTAF1:B-TFIID TATA-box binding protein associated factor 1 [Gene - OMIM - HGNC]
  • FAS-AS1:FAS antisense RNA 1 [Gene - HGNC]
  • FRA10AC1:FRA10A associated CGG repeat 1 [Gene - OMIM - HGNC]
  • FAS:Fas cell surface death receptor [Gene - OMIM - HGNC]
  • HECTD2:HECT domain E3 ubiquitin protein ligase 2 [Gene - HGNC]
  • STAMBPL1:STAM binding protein like 1 [Gene - OMIM - HGNC]
  • ACTA2:actin alpha 2, smooth muscle [Gene - OMIM - HGNC]
  • ANKRD1:ankyrin repeat domain 1 [Gene - OMIM - HGNC]
  • ANKRD22:ankyrin repeat domain 22 [Gene - HGNC]
  • CEP55:centrosomal protein 55 [Gene - OMIM - HGNC]
  • CH25H:cholesterol 25-hydroxylase [Gene - OMIM - HGNC]
  • CYP26A1:cytochrome P450 family 26 subfamily A member 1 [Gene - OMIM - HGNC]
  • CYP26C1:cytochrome P450 family 26 subfamily C member 1 [Gene - OMIM - HGNC]
  • CPEB3:cytoplasmic polyadenylation element binding protein 3 [Gene - OMIM - HGNC]
  • EXOC6:exocyst complex component 6 [Gene - OMIM - HGNC]
  • FGFBP3:fibroblast growth factor binding protein 3 [Gene - HGNC]
  • FFAR4:free fatty acid receptor 4 [Gene - OMIM - HGNC]
  • HHEX:hematopoietically expressed homeobox [Gene - OMIM - HGNC]
  • IDE:insulin degrading enzyme [Gene - OMIM - HGNC]
  • IFIT1:interferon induced protein with tetratricopeptide repeats 1 [Gene - OMIM - HGNC]
  • IFIT1B:interferon induced protein with tetratricopeptide repeats 1B [Gene - HGNC]
  • IFIT2:interferon induced protein with tetratricopeptide repeats 2 [Gene - OMIM - HGNC]
  • IFIT3:interferon induced protein with tetratricopeptide repeats 3 [Gene - OMIM - HGNC]
  • IFIT5:interferon induced protein with tetratricopeptide repeats 5 [Gene - OMIM - HGNC]
  • KIF11:kinesin family member 11 [Gene - OMIM - HGNC]
  • KIF20B:kinesin family member 20B [Gene - OMIM - HGNC]
  • LGI1:leucine rich glioma inactivated 1 [Gene - OMIM - HGNC]
  • LIPA:lipase A, lysosomal acid type [Gene - OMIM - HGNC]
  • LIPF:lipase F, gastric type [Gene - OMIM - HGNC]
  • LIPJ:lipase family member J [Gene - OMIM - HGNC]
  • LIPK:lipase family member K [Gene - OMIM - HGNC]
  • LIPM:lipase family member M [Gene - OMIM - HGNC]
  • LIPN:lipase family member N [Gene - OMIM - HGNC]
  • MARCHF5:membrane associated ring-CH-type finger 5 [Gene - OMIM - HGNC]
  • MIR107:microRNA 107 [Gene - OMIM - HGNC]
  • MYOF:myoferlin [Gene - OMIM - HGNC]
  • PANK1:pantothenate kinase 1 [Gene - OMIM - HGNC]
  • PDE6C:phosphodiesterase 6C [Gene - OMIM - HGNC]
  • PLCE1:phospholipase C epsilon 1 [Gene - OMIM - HGNC]
  • PCGF5:polycomb group ring finger 5 [Gene - OMIM - HGNC]
  • PPP1R3C:protein phosphatase 1 regulatory subunit 3C [Gene - OMIM - HGNC]
  • RNLS:renalase, FAD dependent amine oxidase [Gene - OMIM - HGNC]
  • RBP4:retinol binding protein 4 [Gene - OMIM - HGNC]
  • RPP30:ribonuclease P/MRP subunit p30 [Gene - OMIM - HGNC]
  • SLC16A12:solute carrier family 16 member 12 [Gene - OMIM - HGNC]
  • SLC35G1:solute carrier family 35 member G1 [Gene - OMIM - HGNC]
  • TNKS2:tankyrase 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
10q23.31-23.33
Genomic location:
Chr10: 89823147 - 96056941 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002772513Quest Diagnostics Nichols Institute San Juan Capistrano
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Dec 28, 2021)     		unknownclinical testing

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

    Help

    Summary from all submissions

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

    Citations

    PubMed

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

    Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

    Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002772513.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (1)

    Description

    The copy number loss of 10q23.31q23.33 involves several protein-coding genes and is expected to cause phenotypic and/or developmental abnormalities, and includes KIF11 (OMIM 148760). Haploinsufficiency of KIF11 is associated with autosomal dominant microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (OMIM 152950). Additionally, a de novo 3.1 Mb deletion fully encompassed within the current interval, was reported in an individual with obesity, intellectual disability, and microcephaly (Turkyilmaz 2021). References Turkyilmaz et al., Mol Syndromol. 2021 Jul;12(4):258-262. PMID: 34421505

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Mar 26, 2023