GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 22, 2015
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:: RCV000511130.3

Allele description [Variation Report for GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1]

GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1

Genes:

CLEC17A:C-type lectin domain containing 17A [Gene - OMIM - HGNC]
DAND5:DAN domain BMP antagonist family member 5 [Gene - OMIM - HGNC]
DCAF15:DDB1 and CUL4 associated factor 15 [Gene - OMIM - HGNC]
DDX39A:DExD-box helicase 39A [Gene - OMIM - HGNC]
DNAJB1:DnaJ heat shock protein family (Hsp40) member B1 [Gene - OMIM - HGNC]
FBXW9:F-box and WD repeat domain containing 9 [Gene - OMIM - HGNC]
GADD45GIP1:GADD45G interacting protein 1 [Gene - OMIM - HGNC]
GIPC1:GIPC PDZ domain containing family member 1 [Gene - OMIM - HGNC]
JUNB:JunB proto-oncogene, AP-1 transcription factor subunit [Gene - OMIM - HGNC]
KLF1:KLF transcription factor 1 [Gene - OMIM - HGNC]
LYL1:LYL1 basic helix-loop-helix family member [Gene - OMIM - HGNC]
NDUFB7:NADH:ubiquinone oxidoreductase subunit B7 [Gene - OMIM - HGNC]
RAD23A:RAD23 homolog A, nucleotide excision repair protein [Gene - OMIM - HGNC]
WDR83OS:WD repeat domain 83 opposite strand [Gene - OMIM - HGNC]
WDR83:WD repeat domain 83 [Gene - OMIM - HGNC]
YJU2B:YJU2 splicing factor homolog B [Gene - HGNC]
ADGRE5:adhesion G protein-coupled receptor E5 [Gene - OMIM - HGNC]
ADGRL1:adhesion G protein-coupled receptor L1 [Gene - OMIM - HGNC]
ASF1B:anti-silencing function 1B histone chaperone [Gene - OMIM - HGNC]
BEST2:bestrophin 2 [Gene - OMIM - HGNC]
BRME1:break repair meiotic recombinase recruitment factor 1 [Gene - OMIM - HGNC]
CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]
CALR:calreticulin [Gene - OMIM - HGNC]
C19orf53:chromosome 19 open reading frame 53 [Gene - OMIM - HGNC]
C19orf67:chromosome 19 open reading frame 67 [Gene - HGNC]
CC2D1A:coiled-coil and C2 domain containing 1A [Gene - OMIM - HGNC]
DHPS:deoxyhypusine synthase [Gene - OMIM - HGNC]
DNASE2:deoxyribonuclease 2, lysosomal [Gene - OMIM - HGNC]
GCDH:glutaryl-CoA dehydrogenase [Gene - OMIM - HGNC]
GET3:guided entry of tail-anchored proteins factor 3, ATPase [Gene - OMIM - HGNC]
HOOK2:hook microtubule tethering protein 2 [Gene - OMIM - HGNC]
IER2:immediate early response 2 [Gene - OMIM - HGNC]
IL27RA:interleukin 27 receptor subunit alpha [Gene - OMIM - HGNC]
MAN2B1:mannosidase alpha class 2B member 1 [Gene - OMIM - HGNC]
MRI1:methylthioribose-1-phosphate isomerase 1 [Gene - OMIM - HGNC]
MIR181C:microRNA 181c [Gene - OMIM - HGNC]
MIR23A:microRNA 23a [Gene - OMIM - HGNC]
MIR24-2:microRNA 24-2 [Gene - OMIM - HGNC]
MIR27A:microRNA 27a [Gene - OMIM - HGNC]
MAST1:microtubule associated serine/threonine kinase 1 [Gene - OMIM - HGNC]
NANOS3:nanos C2HC-type zinc finger 3 [Gene - OMIM - HGNC]
NFIX:nuclear factor I X [Gene - OMIM - HGNC]
NACC1:nucleus accumbens associated 1 [Gene - OMIM - HGNC]
PALM3:paralemmin 3 [Gene - HGNC]
PRDX2:peroxiredoxin 2 [Gene - OMIM - HGNC]
FARSA:phenylalanyl-tRNA synthetase subunit alpha [Gene - OMIM - HGNC]
PODNL1:podocan like 1 [Gene - HGNC]
PTGER1:prostaglandin E receptor 1 [Gene - OMIM - HGNC]
PKN1:protein kinase N1 [Gene - OMIM - HGNC]
PRKACA:protein kinase cAMP-activated catalytic subunit alpha [Gene - OMIM - HGNC]
RFX1:regulatory factor X1 [Gene - OMIM - HGNC]
RLN3:relaxin 3 [Gene - OMIM - HGNC]
RTBDN:retbindin [Gene - OMIM - HGNC]
RNASEH2A:ribonuclease H2 subunit A [Gene - OMIM - HGNC]
SAMD1:sterile alpha motif domain containing 1 [Gene - OMIM - HGNC]
SYCE2:synaptonemal complex central element protein 2 [Gene - OMIM - HGNC]
STX10:syntaxin 10 [Gene - OMIM - HGNC]
TRMT1:tRNA methyltransferase 1 [Gene - OMIM - HGNC]
TRIR:telomerase RNA component interacting RNase [Gene - HGNC]
TECR:trans-2,3-enoyl-CoA reductase [Gene - OMIM - HGNC]
TNPO2:transportin 2 [Gene - OMIM - HGNC]
ZSWIM4:zinc finger SWIM-type containing 4 [Gene - OMIM - HGNC]
ZNF490:zinc finger protein 490 [Gene - OMIM - HGNC]
ZNF564:zinc finger protein 564 [Gene - HGNC]
ZNF709:zinc finger protein 709 [Gene - HGNC]
ZNF791:zinc finger protein 791 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

19p13.2-13.12

Genomic location:

Chr19: 12574343 - 14726197 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1

HGVS:

NC_000019.9:g.(?_12574343)_(14726197_?)del

Links:

dbVar: nssv13638819; dbVar: nsv2777082

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000585813	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Jun 22, 2015)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000585813

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Jun 22, 2015)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]

PMID:: 20466091
PMCID:: PMC2869000

Details of each submission

From ISCA site 1, SCV000585813.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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