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GRCh37/hg19 3q13.2-13.32(chr3:113233952-118525556)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 2, 2019
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:
RCV001194596.1

Allele description [Variation Report for GRCh37/hg19 3q13.2-13.32(chr3:113233952-118525556)x1]

GRCh37/hg19 3q13.2-13.32(chr3:113233952-118525556)x1

Genes:
  • ATP6V1A:ATPase H+ transporting V1 subunit A [Gene - OMIM - HGNC]
  • GRAMD1C:GRAM domain containing 1C [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]
  • CCDC191:coiled-coil domain containing 191 [Gene - HGNC]
  • DRD3:dopamine receptor D3 [Gene - OMIM - HGNC]
  • GAP43:growth associated protein 43 [Gene - OMIM - HGNC]
  • LSAMP:limbic system associated membrane protein [Gene - OMIM - HGNC]
  • QTRT2:queuine tRNA-ribosyltransferase accessory subunit 2 [Gene - HGNC]
  • SPICE1:spindle and centriole associated protein 1 [Gene - OMIM - HGNC]
  • USF3:upstream transcription factor family member 3 [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:
3q13.2-13.32
Genomic location:
Chr3: 113233952 - 118525556 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3q13.2-13.32(chr3:113233952-118525556)x1
HGVS:
NC_000003.11:g.(?_113233952)_(118525556_?)del
Observations:
1

Condition(s)

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

Recent activity

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  • Sublegatus modestus voucher NRM966774 cytochrome c oxidase subunit I (COX1) gene...
    Sublegatus modestus voucher NRM966774 cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrial
    gi|1802792900|gb|MT003627.1|
    Nucleotide
  • Homo sapiens transmembrane protein 156 (TMEM156), mRNA
    Homo sapiens transmembrane protein 156 (TMEM156), mRNA
    gi|13376422|ref|NM_024943.1|
    Nucleotide
  • Butanes
    Butanes
    Four-carbon alkanes with the formula C4H10.<br/>Year introduced: 1973
    MeSH
  • Enediynes
    Enediynes
    Compounds with triple bonds to each side of a double bond. Many of these are CYTOTOXINS and are researched for use as CYTOTOXIC ANTIBIOTICS.<br/>Year introduced: 2007
    MeSH
  • Hexanes
    Hexanes
    Six-carbon saturated hydrocarbon group of the methane series. Include isomers and derivatives. Various polyneuropathies are caused by hexane poisoning....<br/>Year introduced: 1978
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001364245Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington
criteria provided, single submitter

(Clinical Cytogenomics Laboratory Policy on CNV Interpretation)		Pathogenic
(Nov 2, 2019) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not providednot providednot providedclinical testing

Citations

PubMed

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.

Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, de Leeuw N, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le Caignec C, Ogilvie CM, Maia S, Mathieu-Dramard M, Munnich A, Palumbo O, et al.

J Med Genet. 2012 Feb;49(2):104-9. doi: 10.1136/jmedgenet-2011-100534. Epub 2011 Dec 17.

PubMed [citation]
PMID:
22180640
PMCID:
PMC3261728

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
See all PubMed Citations (3)

Details of each submission

From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV001364245.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providedAmniotic fluidnot provided1not provided1not provided

Last Updated: Apr 23, 2022