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GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 22, 2010
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:
RCV000135779.5

Allele description [Variation Report for GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1]

GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1

Genes:
  • LOC130063145:ATAC-STARR-seq lymphoblastoid active region 13735 [Gene]
  • LOC130063146:ATAC-STARR-seq lymphoblastoid active region 13736 [Gene]
  • LOC130063147:ATAC-STARR-seq lymphoblastoid active region 13737 [Gene]
  • LOC130063149:ATAC-STARR-seq lymphoblastoid active region 13738 [Gene]
  • LOC130063156:ATAC-STARR-seq lymphoblastoid active region 13740 [Gene]
  • LOC130063164:ATAC-STARR-seq lymphoblastoid active region 13742 [Gene]
  • LOC130063165:ATAC-STARR-seq lymphoblastoid active region 13743 [Gene]
  • LOC130063166:ATAC-STARR-seq lymphoblastoid active region 13744 [Gene]
  • LOC130063167:ATAC-STARR-seq lymphoblastoid active region 13745 [Gene]
  • LOC130063169:ATAC-STARR-seq lymphoblastoid active region 13746 [Gene]
  • LOC130063171:ATAC-STARR-seq lymphoblastoid active region 13748 [Gene]
  • LOC130063142:ATAC-STARR-seq lymphoblastoid silent region 9844 [Gene]
  • LOC130063143:ATAC-STARR-seq lymphoblastoid silent region 9845 [Gene]
  • LOC130063144:ATAC-STARR-seq lymphoblastoid silent region 9846 [Gene]
  • LOC130063148:ATAC-STARR-seq lymphoblastoid silent region 9847 [Gene]
  • LOC130063150:ATAC-STARR-seq lymphoblastoid silent region 9848 [Gene]
  • LOC130063151:ATAC-STARR-seq lymphoblastoid silent region 9849 [Gene]
  • LOC130063152:ATAC-STARR-seq lymphoblastoid silent region 9850 [Gene]
  • LOC130063153:ATAC-STARR-seq lymphoblastoid silent region 9851 [Gene]
  • LOC130063154:ATAC-STARR-seq lymphoblastoid silent region 9852 [Gene]
  • LOC130063155:ATAC-STARR-seq lymphoblastoid silent region 9853 [Gene]
  • LOC130063157:ATAC-STARR-seq lymphoblastoid silent region 9854 [Gene]
  • LOC130063158:ATAC-STARR-seq lymphoblastoid silent region 9855 [Gene]
  • LOC130063159:ATAC-STARR-seq lymphoblastoid silent region 9856 [Gene]
  • LOC130063160:ATAC-STARR-seq lymphoblastoid silent region 9857 [Gene]
  • LOC130063161:ATAC-STARR-seq lymphoblastoid silent region 9859 [Gene]
  • LOC130063162:ATAC-STARR-seq lymphoblastoid silent region 9860 [Gene]
  • LOC130063163:ATAC-STARR-seq lymphoblastoid silent region 9861 [Gene]
  • LOC130063168:ATAC-STARR-seq lymphoblastoid silent region 9864 [Gene]
  • LOC130063170:ATAC-STARR-seq lymphoblastoid silent region 9865 [Gene]
  • ATCAY:ATCAY kinesin light chain interacting caytaxin [Gene - OMIM - HGNC]
  • CACTIN-AS1:CACTIN antisense RNA 1 [Gene - HGNC]
  • GIPC3:GIPC PDZ domain containing family member 3 [Gene - OMIM - HGNC]
  • LOC129391027:MPRA-validated peak3246 silencer [Gene]
  • LOC129391028:MPRA-validated peak3248 silencer [Gene]
  • LOC129391029:MPRA-validated peak3250 silencer [Gene]
  • LOC129391030:MPRA-validated peak3252 silencer [Gene]
  • LOC129391031:MPRA-validated peak3254 silencer [Gene]
  • LOC129391032:MPRA-validated peak3255 silencer [Gene]
  • LOC129391033:MPRA-validated peak3257 silencer [Gene]
  • LOC113939970:Sharpr-MPRA regulatory region 13254 [Gene]
  • LOC125371452:Sharpr-MPRA regulatory region 13615 [Gene]
  • LOC125371453:Sharpr-MPRA regulatory region 15218 [Gene]
  • LOC121852973:Sharpr-MPRA regulatory region 208 [Gene]
  • LOC112543481:Sharpr-MPRA regulatory region 323 [Gene]
  • LOC112543482:Sharpr-MPRA regulatory region 5698 [Gene]
  • LOC121852972:Sharpr-MPRA regulatory region 8051 [Gene]
  • APBA3:amyloid beta precursor protein binding family A member 3 [Gene - OMIM - HGNC]
  • CACTIN:cactin, spliceosome C complex subunit [Gene - OMIM - HGNC]
  • DAPK3:death associated protein kinase 3 [Gene - OMIM - HGNC]
  • DOHH:deoxyhypusine hydroxylase [Gene - OMIM - HGNC]
  • EEF2:eukaryotic translation elongation factor 2 [Gene - OMIM - HGNC]
  • FZR1:fizzy and cell division cycle 20 related 1 [Gene - OMIM - HGNC]
  • HMG20B:high mobility group 20B [Gene - OMIM - HGNC]
  • MFSD12:major facilitator superfamily domain containing 12 [Gene - OMIM - HGNC]
  • MATK:megakaryocyte-associated tyrosine kinase [Gene - OMIM - HGNC]
  • LOC128772422:melanoma risk locus-associated MPRA allelic enhancer 19:3540539 [Gene]
  • LOC128772423:melanoma risk locus-associated MPRA allelic enhancer 19:3542983 [Gene]
  • LOC128772424:melanoma risk locus-associated MPRA allelic enhancer 19:3550926 [Gene]
  • MIR637:microRNA 637 [Gene - HGNC]
  • MRPL54:mitochondrial ribosomal protein L54 [Gene - OMIM - HGNC]
  • NMRK2:nicotinamide riboside kinase 2 [Gene - OMIM - HGNC]
  • NFIC:nuclear factor I C [Gene - OMIM - HGNC]
  • PIP5K1C:phosphatidylinositol-4-phosphate 5-kinase type 1 gamma [Gene - OMIM - HGNC]
  • PIAS4:protein inhibitor of activated STAT 4 [Gene - OMIM - HGNC]
  • RAX2:retina and anterior neural fold homeobox 2 [Gene - OMIM - HGNC]
  • SMIM24:small integral membrane protein 24 [Gene - HGNC]
  • SMIM44:small integral membrane protein 44 [Gene - HGNC]
  • SNORD37:small nucleolar RNA, C/D box 37 [Gene - HGNC]
  • TEKTIP1:tektin bundle interacting protein 1 [Gene - HGNC]
  • TBXA2R:thromboxane A2 receptor [Gene - OMIM - HGNC]
  • TJP3:tight junction protein 3 [Gene - OMIM - HGNC]
  • ZFR2:zinc finger RNA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1
HGVS:
  • NC_000019.10:g.(?_3437996)_(4039217_?)del
  • NC_000019.8:g.(?_3388994)_(3990215_?)del
  • NC_000019.9:g.(?_3437994)_(4039215_?)del
Links:
dbVar: nssv582698; dbVar: nsv533041
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000175766ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humande novoyes1not providednot providednot providednot providedclinical 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, SCV000175766.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024