U.S. flag

An official website of the United States government

GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 2, 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:
RCV002279751.1

Allele description [Variation Report for GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1]

GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1

Genes:
  • BRSK1:BR serine/threonine kinase 1 [Gene - OMIM - HGNC]
  • EPS8L1:EPS8 like 1 [Gene - OMIM - HGNC]
  • FIZ1:FLT3 interacting zinc finger 1 [Gene - OMIM - HGNC]
  • HSPBP1:HSPA (Hsp70) binding protein 1 [Gene - OMIM - HGNC]
  • NAT14:N-acetyltransferase 14 (putative) [Gene - HGNC]
  • NLRP11:NLR family pyrin domain containing 11 [Gene - OMIM - HGNC]
  • NLRP13:NLR family pyrin domain containing 13 [Gene - OMIM - HGNC]
  • NLRP2:NLR family pyrin domain containing 2 [Gene - OMIM - HGNC]
  • NLRP4:NLR family pyrin domain containing 4 [Gene - OMIM - HGNC]
  • NLRP7:NLR family pyrin domain containing 7 [Gene - OMIM - HGNC]
  • NLRP8:NLR family pyrin domain containing 8 [Gene - OMIM - HGNC]
  • NLRP9:NLR family pyrin domain containing 9 [Gene - OMIM - HGNC]
  • SBK2:SH3 domain binding kinase family member 2 [Gene - HGNC]
  • U2AF2:U2 small nuclear RNA auxiliary factor 2 [Gene - OMIM - HGNC]
  • CCDC106:coiled-coil domain containing 106 [Gene - OMIM - HGNC]
  • COX6B2:cytochrome c oxidase subunit 6B2 [Gene - OMIM - HGNC]
  • DNAAF3:dynein axonemal assembly factor 3 [Gene - OMIM - HGNC]
  • EPN1:epsin 1 [Gene - OMIM - HGNC]
  • GP6:glycoprotein VI platelet [Gene - OMIM - HGNC]
  • GARIN5B:golgi associated RAB2 interactor family member 5B [Gene - HGNC]
  • IL11:interleukin 11 [Gene - OMIM - HGNC]
  • ISOC2:isochorismatase domain containing 2 [Gene - OMIM - HGNC]
  • KMT5C:lysine methyltransferase 5C [Gene - OMIM - HGNC]
  • PPP1R12C:protein phosphatase 1 regulatory subunit 12C [Gene - OMIM - HGNC]
  • PPP6R1:protein phosphatase 6 regulatory subunit 1 [Gene - OMIM - HGNC]
  • PTPRH:protein tyrosine phosphatase receptor type H [Gene - OMIM - HGNC]
  • RFPL4AL1:ret finger protein like 4A like 1 [Gene - HGNC]
  • RFPL4A:ret finger protein like 4A [Gene - OMIM - HGNC]
  • RDH13:retinol dehydrogenase 13 [Gene - HGNC]
  • RPL28:ribosomal protein L28 [Gene - OMIM - HGNC]
  • SSC5D:scavenger receptor cysteine rich family member with 5 domains [Gene - OMIM - HGNC]
  • SHISA7:shisa family member 7 [Gene - OMIM - HGNC]
  • SYT5:synaptotagmin 5 [Gene - OMIM - HGNC]
  • TMEM150B:transmembrane protein 150B [Gene - OMIM - HGNC]
  • TMEM190:transmembrane protein 190 [Gene - HGNC]
  • TMEM238:transmembrane protein 238 [Gene - HGNC]
  • TMEM86B:transmembrane protein 86B [Gene - OMIM - HGNC]
  • TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]
  • TNNT1:troponin T1, slow skeletal type [Gene - OMIM - HGNC]
  • UBE2S:ubiquitin conjugating enzyme E2 S [Gene - OMIM - HGNC]
  • ZNF524:zinc finger protein 524 [Gene - HGNC]
  • ZNF579:zinc finger protein 579 [Gene - HGNC]
  • ZNF580:zinc finger protein 580 [Gene - OMIM - HGNC]
  • ZNF581:zinc finger protein 581 [Gene - HGNC]
  • ZNF628:zinc finger protein 628 [Gene - OMIM - HGNC]
  • ZNF784:zinc finger protein 784 [Gene - HGNC]
  • ZNF865:zinc finger protein 865 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
19q13.42-13.43
Genomic location:
Chr19: 55434660 - 56463734 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1
HGVS:
NC_000019.9:g.(?_55434660)_(56463734_?)del

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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
SCV002098080Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud
criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)		Uncertain significance
(Feb 2, 2022) 		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

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.

PubMed [citation]
PMID:
31690835
PMCID:
PMC7313390

Details of each submission

From Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud, SCV002098080.1

#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: Mar 26, 2023