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GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 5, 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:
RCV003329531.1

Allele description [Variation Report for GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3]

GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3

Genes:
  • OASL:2'-5'-oligoadenylate synthetase like [Gene - OMIM - HGNC]
  • OGFOD2:2-oxoglutarate and iron dependent oxygenase domain containing 2 [Gene - HGNC]
  • HPD:4-hydroxyphenylpyruvate dioxygenase [Gene - OMIM - HGNC]
  • ARL6IP4:ADP ribosylation factor like GTPase 6 interacting protein 4 [Gene - OMIM - HGNC]
  • ABCB9:ATP binding cassette subfamily B member 9 [Gene - OMIM - HGNC]
  • BCL7A:BAF chromatin remodeling complex subunit BCL7A [Gene - OMIM - HGNC]
  • CLIP1:CAP-Gly domain containing linker protein 1 [Gene - OMIM - HGNC]
  • DDX55:DEAD-box helicase 55 [Gene - OMIM - HGNC]
  • HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]
  • MPHOSPH9:M-phase phosphoprotein 9 [Gene - OMIM - HGNC]
  • MLXIP:MLX interacting protein [Gene - OMIM - HGNC]
  • MORN3:MORN repeat containing 3 [Gene - HGNC]
  • ORAI1:ORAI calcium release-activated calcium modulator 1 [Gene - OMIM - HGNC]
  • RILPL1:Rab interacting lysosomal protein like 1 [Gene - OMIM - HGNC]
  • RILPL2:Rab interacting lysosomal protein like 2 [Gene - OMIM - HGNC]
  • SETD1B:SET domain containing 1B, histone lysine methyltransferase [Gene - OMIM - HGNC]
  • B3GNT4:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 [Gene - OMIM - HGNC]
  • VPS33A:VPS33A core subunit of CORVET and HOPS complexes [Gene - OMIM - HGNC]
  • VPS37B:VPS37B subunit of ESCRT-I [Gene - OMIM - HGNC]
  • ANAPC5:anaphase promoting complex subunit 5 [Gene - OMIM - HGNC]
  • RSRC2:arginine and serine rich coiled-coil 2 [Gene - OMIM - HGNC]
  • CAMKK2:calcium/calmodulin dependent protein kinase kinase 2 [Gene - OMIM - HGNC]
  • C12orf43:chromosome 12 open reading frame 43 [Gene - HGNC]
  • CFAP251:cilia and flagella associated protein 251 [Gene - OMIM - HGNC]
  • CCDC62:coiled-coil domain containing 62 [Gene - OMIM - HGNC]
  • CDK2AP1:cyclin dependent kinase 2 associated protein 1 [Gene - OMIM - HGNC]
  • DENR:density regulated re-initiation and release factor [Gene - OMIM - HGNC]
  • DIABLO:diablo IAP-binding mitochondrial protein [Gene - OMIM - HGNC]
  • HIP1R:huntingtin interacting protein 1 related [Gene - OMIM - HGNC]
  • HCAR1:hydroxycarboxylic acid receptor 1 [Gene - OMIM - HGNC]
  • HCAR2:hydroxycarboxylic acid receptor 2 [Gene - OMIM - HGNC]
  • HCAR3:hydroxycarboxylic acid receptor 3 [Gene - OMIM - HGNC]
  • IL31:interleukin 31 [Gene - OMIM - HGNC]
  • KNTC1:kinetochore associated 1 [Gene - OMIM - HGNC]
  • LRRC43:leucine rich repeat containing 43 [Gene - HGNC]
  • KDM2B:lysine demethylase 2B [Gene - OMIM - HGNC]
  • KMT5A:lysine methyltransferase 5A [Gene - OMIM - HGNC]
  • MTRFR:mitochondrial translation release factor in rescue [Gene - OMIM - HGNC]
  • PITPNM2:phosphatidylinositol transfer protein membrane associated 2 [Gene - OMIM - HGNC]
  • PSMD9:proteasome 26S subunit, non-ATPase 9 [Gene - OMIM - HGNC]
  • P2RX4:purinergic receptor P2X 4 [Gene - OMIM - HGNC]
  • P2RX7:purinergic receptor P2X 7 [Gene - OMIM - HGNC]
  • RHOF:ras homolog family member F, filopodia associated [Gene - OMIM - HGNC]
  • RNF34:ring finger protein 34 [Gene - OMIM - HGNC]
  • SPPL3:signal peptide peptidase like 3 [Gene - OMIM - HGNC]
  • SNRNP35:small nuclear ribonucleoprotein U11/U12 subunit 35 [Gene - OMIM - HGNC]
  • SBNO1:strawberry notch homolog 1 [Gene - OMIM - HGNC]
  • TMED2:transmembrane p24 trafficking protein 2 [Gene - OMIM - HGNC]
  • TMEM120B:transmembrane protein 120B [Gene - OMIM - HGNC]
  • ZCCHC8:zinc finger CCHC-type containing 8 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
12q24.31
Genomic location:
Chr12: 121341598 - 124103434 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3
HGVS:

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004036117Institute of Human Genetics, University of Leipzig Medical Center
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Uncertain significance
    (Dec 5, 2022)     		unknownclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyesnot 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 Institute of Human Genetics, University of Leipzig Medical Center, SCV004036117.1

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

    Last Updated: Oct 14, 2023