U.S. flag

An official website of the United States government

GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 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:
RCV000856645.4

Allele description [Variation Report for GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1]

GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)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]
  • CD200R1L:CD200 receptor 1 like [Gene - HGNC]
  • CD200R1:CD200 receptor 1 [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]
  • ATG3:autophagy related 3 [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]
  • GAP43:growth associated protein 43 [Gene - OMIM - HGNC]
  • NEPRO:nucleolus and neural progenitor protein [Gene - OMIM - HGNC]
  • QTRT2:queuine tRNA-ribosyltransferase accessory subunit 2 [Gene - HGNC]
  • SLC35A5:solute carrier family 35 member A5 [Gene - OMIM - 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:
3q13.2-13.31
Genomic location:
Chr3: 112183943 - 115492949 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1
HGVS:
NC_000003.11:g.(?_112183943)_(115492949_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV000966016Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Pathogenic
(Jan 1, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Details of each submission

From Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud, SCV000966016.1

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

Last Updated: Jun 23, 2024