U.S. flag

An official website of the United States government

GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1 AND Chromosome 3q13.31 deletion syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 23, 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:
RCV003222552.1

Allele description [Variation Report for GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1]

GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1

Genes:
  • ATP6V1A:ATPase H+ transporting V1 subunit A [Gene - OMIM - HGNC]
  • BTLA:B and T lymphocyte associated [Gene - OMIM - HGNC]
  • BOC:BOC cell adhesion associated, oncogene regulated [Gene - OMIM - HGNC]
  • CD200:CD200 molecule [Gene - OMIM - HGNC]
  • CD200R1L:CD200 receptor 1 like [Gene - HGNC]
  • CD200R1:CD200 receptor 1 [Gene - OMIM - HGNC]
  • CD96:CD96 molecule [Gene - OMIM - HGNC]
  • GRAMD1C:GRAM domain containing 1C [Gene - OMIM - HGNC]
  • GTPBP8:GTP binding protein 8 (putative) [Gene - HGNC]
  • NAA50:N-alpha-acetyltransferase 50, NatE catalytic subunit [Gene - OMIM - HGNC]
  • SIDT1:SID1 transmembrane family member 1 [Gene - OMIM - HGNC]
  • TIGIT:T cell immunoreceptor with Ig and ITIM domains [Gene - OMIM - HGNC]
  • ABHD10:abhydrolase domain containing 10, depalmitoylase [Gene - OMIM - HGNC]
  • ATG3:autophagy related 3 [Gene - OMIM - HGNC]
  • C3orf52:chromosome 3 open reading frame 52 [Gene - OMIM - HGNC]
  • CFAP44:cilia and flagella associated protein 44 [Gene - OMIM - HGNC]
  • CCDC191:coiled-coil domain containing 191 [Gene - HGNC]
  • CCDC80:coiled-coil domain containing 80 [Gene - OMIM - HGNC]
  • DRD3:dopamine receptor D3 [Gene - OMIM - HGNC]
  • GCSAM:germinal center associated signaling and motility [Gene - OMIM - HGNC]
  • GAP43:growth associated protein 43 [Gene - OMIM - HGNC]
  • LSAMP:limbic system associated membrane protein [Gene - OMIM - HGNC]
  • NEPRO:nucleolus and neural progenitor protein [Gene - OMIM - HGNC]
  • PLCXD2:phosphatidylinositol specific phospholipase C X domain containing 2 [Gene - OMIM - HGNC]
  • PHLDB2:pleckstrin homology like domain family B member 2 [Gene - OMIM - HGNC]
  • QTRT2:queuine tRNA-ribosyltransferase accessory subunit 2 [Gene - HGNC]
  • SLC35A5:solute carrier family 35 member A5 [Gene - OMIM - HGNC]
  • SLC9C1:solute carrier family 9 member C1 [Gene - OMIM - HGNC]
  • SPICE1:spindle and centriole associated protein 1 [Gene - OMIM - HGNC]
  • TAGLN3:transgelin 3 [Gene - OMIM - HGNC]
  • TMPRSS7:transmembrane serine protease 7 [Gene - HGNC]
  • USF3:upstream transcription factor family member 3 [Gene - OMIM - HGNC]
  • ZBED2:zinc finger BED-type containing 2 [Gene - OMIM - HGNC]
  • ZDHHC23:zinc finger DHHC-type palmitoyltransferase 23 [Gene - OMIM - HGNC]
  • ZBTB20:zinc finger and BTB domain containing 20 [Gene - OMIM - HGNC]
  • ZNF80:zinc finger protein 80 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
3q13.13-13.31
Genomic location:
Chr3: 110943783 - 115859912 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1
HGVS:
    Observations:
    1

    Condition(s)

    Name:
    Chromosome 3q13.31 deletion syndrome
    Identifiers:
    MONDO: MONDO:0014185; MedGen: C3809490; OMIM: 615433

    Recent activity

    Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...

      Assertion and evidence details

      Help
      Submission AccessionSubmitterReview Status
      (Assertion method)      		Clinical Significance
      (Last evaluated)      		OriginMethodCitations
      SCV003915759Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ
      no assertion criteria provided
      		Pathogenic
      (Nov 23, 2022)       		de novoclinical testing

      PubMed (2)
      [See all records that cite these PMIDs]

      Help

      Summary from all submissions

      EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
      not providedde novoyes1not providednot providednot providednot providedclinical testing

      Citations

      PubMed

      Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion.

      Quintela I, Gomez-Guerrero L, Fernandez-Prieto M, Resches M, Barros F, Carracedo A.

      Am J Med Genet A. 2015 Dec;167A(12):3121-9. doi: 10.1002/ajmg.a.37292. Epub 2015 Aug 29.

      PubMed [citation]
      PMID:
      26332054

      Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.

      Shuvarikov A, Campbell IM, Dittwald P, Neill NJ, Bialer MG, Moore C, Wheeler PG, Wallace SE, Hannibal MC, Murray MF, Giovanni MA, Terespolsky D, Sodhi S, Cassina M, Viskochil D, Moghaddam B, Herman K, Brown CW, Beck CR, Gambin A, Cheung SW, Patel A, et al.

      Hum Mutat. 2013 Oct;34(10):1415-23. doi: 10.1002/humu.22384. Epub 2013 Aug 13.

      PubMed [citation]
      PMID:
      23878096
      PMCID:
      PMC4599348

      Details of each submission

      From Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ, SCV003915759.1

      #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
      11not providednot providedclinical testing PubMed (2)
      #SampleMethodObservation
      OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
      1de novoyesnot providednot providednot provided1not providednot providednot provided

      Last Updated: Apr 23, 2023