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GRCh38/hg38 16p13.3(chr16:23141-1712523)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
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:
RCV000053252.9

Allele description [Variation Report for GRCh38/hg38 16p13.3(chr16:23141-1712523)x1]

GRCh38/hg38 16p13.3(chr16:23141-1712523)x1

Genes:
  • LOC110596865:16p subtelomeric meiotic recombination hotspot [Gene]
  • DECR2:2,4-dienoyl-CoA reductase 2 [Gene - OMIM - HGNC]
  • LOC130058083:ATAC-STARR-seq lymphoblastoid active region 10197 [Gene]
  • LOC130058086:ATAC-STARR-seq lymphoblastoid active region 10199 [Gene]
  • LOC130058089:ATAC-STARR-seq lymphoblastoid active region 10200 [Gene]
  • LOC130058090:ATAC-STARR-seq lymphoblastoid active region 10202 [Gene]
  • LOC130058092:ATAC-STARR-seq lymphoblastoid active region 10203 [Gene]
  • LOC130058100:ATAC-STARR-seq lymphoblastoid active region 10204 [Gene]
  • LOC130058106:ATAC-STARR-seq lymphoblastoid active region 10207 [Gene]
  • LOC130058111:ATAC-STARR-seq lymphoblastoid active region 10208 [Gene]
  • LOC130058116:ATAC-STARR-seq lymphoblastoid active region 10209 [Gene]
  • LOC130058117:ATAC-STARR-seq lymphoblastoid active region 10210 [Gene]
  • LOC130058123:ATAC-STARR-seq lymphoblastoid active region 10212 [Gene]
  • LOC130058125:ATAC-STARR-seq lymphoblastoid active region 10213 [Gene]
  • LOC130058126:ATAC-STARR-seq lymphoblastoid active region 10214 [Gene]
  • LOC130058139:ATAC-STARR-seq lymphoblastoid active region 10215 [Gene]
  • LOC130058142:ATAC-STARR-seq lymphoblastoid active region 10216 [Gene]
  • LOC130058145:ATAC-STARR-seq lymphoblastoid active region 10217 [Gene]
  • LOC130058149:ATAC-STARR-seq lymphoblastoid active region 10218 [Gene]
  • LOC130058152:ATAC-STARR-seq lymphoblastoid active region 10219 [Gene]
  • LOC130058153:ATAC-STARR-seq lymphoblastoid active region 10220 [Gene]
  • LOC130058154:ATAC-STARR-seq lymphoblastoid active region 10221 [Gene]
  • LOC130058157:ATAC-STARR-seq lymphoblastoid active region 10222 [Gene]
  • LOC130058167:ATAC-STARR-seq lymphoblastoid active region 10226 [Gene]
  • LOC130058169:ATAC-STARR-seq lymphoblastoid active region 10227 [Gene]
  • LOC130058170:ATAC-STARR-seq lymphoblastoid active region 10228 [Gene]
  • LOC130058171:ATAC-STARR-seq lymphoblastoid active region 10229 [Gene]
  • LOC130058172:ATAC-STARR-seq lymphoblastoid active region 10230 [Gene]
  • LOC130058084:ATAC-STARR-seq lymphoblastoid silent region 6897 [Gene]
  • LOC130058085:ATAC-STARR-seq lymphoblastoid silent region 6898 [Gene]
  • LOC130058087:ATAC-STARR-seq lymphoblastoid silent region 6899 [Gene]
  • LOC130058088:ATAC-STARR-seq lymphoblastoid silent region 6901 [Gene]
  • LOC130058091:ATAC-STARR-seq lymphoblastoid silent region 6903 [Gene]
  • LOC130058093:ATAC-STARR-seq lymphoblastoid silent region 6907 [Gene]
  • LOC130058094:ATAC-STARR-seq lymphoblastoid silent region 6908 [Gene]
  • LOC130058095:ATAC-STARR-seq lymphoblastoid silent region 6909 [Gene]
  • LOC130058096:ATAC-STARR-seq lymphoblastoid silent region 6910 [Gene]
  • LOC130058097:ATAC-STARR-seq lymphoblastoid silent region 6911 [Gene]
  • LOC130058098:ATAC-STARR-seq lymphoblastoid silent region 6912 [Gene]
  • LOC130058099:ATAC-STARR-seq lymphoblastoid silent region 6916 [Gene]
  • LOC130058101:ATAC-STARR-seq lymphoblastoid silent region 6917 [Gene]
  • LOC130058102:ATAC-STARR-seq lymphoblastoid silent region 6918 [Gene]
  • LOC130058103:ATAC-STARR-seq lymphoblastoid silent region 6919 [Gene]
  • LOC130058104:ATAC-STARR-seq lymphoblastoid silent region 6920 [Gene]
  • LOC130058105:ATAC-STARR-seq lymphoblastoid silent region 6921 [Gene]
  • LOC130058107:ATAC-STARR-seq lymphoblastoid silent region 6924 [Gene]
  • LOC130058108:ATAC-STARR-seq lymphoblastoid silent region 6925 [Gene]
  • LOC130058109:ATAC-STARR-seq lymphoblastoid silent region 6926 [Gene]
  • LOC130058110:ATAC-STARR-seq lymphoblastoid silent region 6927 [Gene]
  • LOC130058112:ATAC-STARR-seq lymphoblastoid silent region 6928 [Gene]
  • LOC130058113:ATAC-STARR-seq lymphoblastoid silent region 6929 [Gene]
  • LOC130058114:ATAC-STARR-seq lymphoblastoid silent region 6931 [Gene]
  • LOC130058115:ATAC-STARR-seq lymphoblastoid silent region 6932 [Gene]
  • LOC130058118:ATAC-STARR-seq lymphoblastoid silent region 6937 [Gene]
  • LOC130058119:ATAC-STARR-seq lymphoblastoid silent region 6938 [Gene]
  • LOC130058120:ATAC-STARR-seq lymphoblastoid silent region 6939 [Gene]
  • LOC130058121:ATAC-STARR-seq lymphoblastoid silent region 6940 [Gene]
  • LOC130058122:ATAC-STARR-seq lymphoblastoid silent region 6941 [Gene]
  • LOC130058124:ATAC-STARR-seq lymphoblastoid silent region 6942 [Gene]
  • LOC130058127:ATAC-STARR-seq lymphoblastoid silent region 6944 [Gene]
  • LOC130058128:ATAC-STARR-seq lymphoblastoid silent region 6945 [Gene]
  • LOC130058129:ATAC-STARR-seq lymphoblastoid silent region 6949 [Gene]
  • LOC130058130:ATAC-STARR-seq lymphoblastoid silent region 6950 [Gene]
  • LOC130058131:ATAC-STARR-seq lymphoblastoid silent region 6951 [Gene]
  • LOC130058132:ATAC-STARR-seq lymphoblastoid silent region 6952 [Gene]
  • LOC130058133:ATAC-STARR-seq lymphoblastoid silent region 6953 [Gene]
  • LOC130058134:ATAC-STARR-seq lymphoblastoid silent region 6956 [Gene]
  • LOC130058135:ATAC-STARR-seq lymphoblastoid silent region 6957 [Gene]
  • LOC130058136:ATAC-STARR-seq lymphoblastoid silent region 6958 [Gene]
  • LOC130058137:ATAC-STARR-seq lymphoblastoid silent region 6959 [Gene]
  • LOC130058138:ATAC-STARR-seq lymphoblastoid silent region 6960 [Gene]
  • LOC130058140:ATAC-STARR-seq lymphoblastoid silent region 6961 [Gene]
  • LOC130058141:ATAC-STARR-seq lymphoblastoid silent region 6962 [Gene]
  • LOC130058143:ATAC-STARR-seq lymphoblastoid silent region 6963 [Gene]
  • LOC130058144:ATAC-STARR-seq lymphoblastoid silent region 6964 [Gene]
  • LOC130058146:ATAC-STARR-seq lymphoblastoid silent region 6965 [Gene]
  • LOC130058147:ATAC-STARR-seq lymphoblastoid silent region 6966 [Gene]
  • LOC130058148:ATAC-STARR-seq lymphoblastoid silent region 6967 [Gene]
  • LOC130058150:ATAC-STARR-seq lymphoblastoid silent region 6968 [Gene]
  • LOC130058151:ATAC-STARR-seq lymphoblastoid silent region 6969 [Gene]
  • LOC130058155:ATAC-STARR-seq lymphoblastoid silent region 6970 [Gene]
  • LOC130058156:ATAC-STARR-seq lymphoblastoid silent region 6971 [Gene]
  • LOC130058158:ATAC-STARR-seq lymphoblastoid silent region 6972 [Gene]
  • LOC130058159:ATAC-STARR-seq lymphoblastoid silent region 6973 [Gene]
  • LOC130058160:ATAC-STARR-seq lymphoblastoid silent region 6974 [Gene]
  • LOC130058161:ATAC-STARR-seq lymphoblastoid silent region 6975 [Gene]
  • LOC130058162:ATAC-STARR-seq lymphoblastoid silent region 6976 [Gene]
  • LOC130058163:ATAC-STARR-seq lymphoblastoid silent region 6979 [Gene]
  • LOC130058164:ATAC-STARR-seq lymphoblastoid silent region 6984 [Gene]
  • LOC130058165:ATAC-STARR-seq lymphoblastoid silent region 6985 [Gene]
  • LOC130058166:ATAC-STARR-seq lymphoblastoid silent region 6986 [Gene]
  • LOC130058168:ATAC-STARR-seq lymphoblastoid silent region 6991 [Gene]
  • LOC130058173:ATAC-STARR-seq lymphoblastoid silent region 6998 [Gene]
  • LOC130058174:ATAC-STARR-seq lymphoblastoid silent region 6999 [Gene]
  • BAIAP3:BAI1 associated protein 3 [Gene - OMIM - HGNC]
  • C1QTNF8:C1q and TNF related 8 [Gene - OMIM - HGNC]
  • LOC126862260:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:1574508-1575707 [Gene]
  • FBXL16:F-box and leucine rich repeat protein 16 [Gene - OMIM - HGNC]
  • GNG13:G protein subunit gamma 13 [Gene - OMIM - HGNC]
  • JPT2:Jupiter microtubule associated homolog 2 [Gene - OMIM - HGNC]
  • LMF1-AS1:LMF1 antisense RNA 1 [Gene - HGNC]
  • LUC7L:LUC7 like [Gene - OMIM - HGNC]
  • MCRIP2:MAPK regulated corepressor interacting protein 2 [Gene - HGNC]
  • LOC129390753:MPRA-validated peak2468 silencer [Gene]
  • LOC110596863:MS205 minisatellite repeat instability region [Gene]
  • LOC111188163:MSLN promoter region [Gene]
  • GNPTG:N-acetylglucosamine-1-phosphate transferase subunit gamma [Gene - OMIM - HGNC]
  • MPG:N-methylpurine DNA glycosylase [Gene - OMIM - HGNC]
  • NHLRC4:NHL repeat containing 4 [Gene - HGNC]
  • NME4:NME/NM23 nucleoside diphosphate kinase 4 [Gene - OMIM - HGNC]
  • NPRL3:NPR3 like, GATOR1 complex subunit [Gene - OMIM - HGNC]
  • LOC132090370:Neanderthal introgressed variant-containing enhancer experimental_42864 [Gene]
  • LOC132090437:Neanderthal introgressed variant-containing enhancer experimental_46330 [Gene]
  • RAB11FIP3:RAB11 family interacting protein 3 [Gene - OMIM - HGNC]
  • RAB40C:RAB40C, member RAS oncogene family [Gene - OMIM - HGNC]
  • POLR3K:RNA polymerase III subunit K [Gene - OMIM - HGNC]
  • RPUSD1:RNA pseudouridine synthase domain containing 1 [Gene - HGNC]
  • ARHGDIG:Rho GDP dissociation inhibitor gamma [Gene - OMIM - HGNC]
  • SOX8:SRY-box transcription factor 8 [Gene - OMIM - HGNC]
  • SSTR5-AS1:SSTR5 antisense RNA 1 [Gene - HGNC]
  • STUB1:STIP1 homology and U-box containing protein 1 [Gene - OMIM - HGNC]
  • LOC121530609:Sharpr-MPRA regulatory region 11614 [Gene]
  • LOC121530607:Sharpr-MPRA regulatory region 12344 [Gene]
  • LOC121847967:Sharpr-MPRA regulatory region 13654 [Gene]
  • LOC121530606:Sharpr-MPRA regulatory region 13767 [Gene]
  • LOC125146371:Sharpr-MPRA regulatory region 3989 [Gene]
  • LOC112441449:Sharpr-MPRA regulatory region 4309 [Gene]
  • LOC121530608:Sharpr-MPRA regulatory region 977 [Gene]
  • TSR3:TSR3 ribosome maturation factor [Gene - OMIM - HGNC]
  • WFIKKN1:WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 [Gene - OMIM - HGNC]
  • WASIR2:WASH and IL9R antisense RNA 2 [Gene - HGNC]
  • WDR24:WD repeat domain 24 [Gene - OMIM - HGNC]
  • WDR90:WD repeat domain 90 [Gene - OMIM - HGNC]
  • ANTKMT:adenine nucleotide translocase lysine methyltransferase [Gene - OMIM - HGNC]
  • HBA-LCR:alpha-globin locus control region [Gene]
  • AXIN1:axin 1 [Gene - OMIM - HGNC]
  • CACNA1H:calcium voltage-gated channel subunit alpha1 H [Gene - OMIM - HGNC]
  • CAPN15:calpain 15 [Gene - OMIM - HGNC]
  • CLCN7:chloride voltage-gated channel 7 [Gene - OMIM - HGNC]
  • CHTF18:chromosome transmission fidelity factor 18 [Gene - OMIM - HGNC]
  • CCDC154:coiled-coil domain containing 154 [Gene - OMIM - HGNC]
  • CCDC78:coiled-coil domain containing 78 [Gene - OMIM - HGNC]
  • CRAMP1:cramped chromatin regulator homolog 1 [Gene - HGNC]
  • CEROX1:cytoplasmic endogenous regulator of oxidative phosphorylation 1 [Gene - HGNC]
  • CIAO3:cytosolic iron-sulfur assembly component 3 [Gene - OMIM - HGNC]
  • FAM234A:family with sequence similarity 234 member A [Gene - HGNC]
  • LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
  • HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]
  • LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
  • HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]
  • HBM:hemoglobin subunit mu [Gene - OMIM - HGNC]
  • HBQ1:hemoglobin subunit theta 1 [Gene - OMIM - HGNC]
  • HBZ:hemoglobin subunit zeta [Gene - OMIM - HGNC]
  • HAGHL:hydroxyacylglutathione hydrolase like [Gene - HGNC]
  • LOC115253417:intestine-critical region regulatory element [Gene]
  • IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]
  • JMJD8:jumonji domain containing 8 [Gene - HGNC]
  • LMF1:lipase maturation factor 1 [Gene - OMIM - HGNC]
  • LINC00235:long intergenic non-protein coding RNA 235 [Gene - HGNC]
  • MSLN:mesothelin [Gene - OMIM - HGNC]
  • METRN:meteorin, glial cell differentiation regulator [Gene - OMIM - HGNC]
  • METTL26:methyltransferase like 26 [Gene - HGNC]
  • MIR3176:microRNA 3176 [Gene - HGNC]
  • MIR5587:microRNA 5587 [Gene - HGNC]
  • MIR662:microRNA 662 [Gene - HGNC]
  • MRPL28:mitochondrial ribosomal protein L28 [Gene - OMIM - HGNC]
  • MAPK8IP3:mitogen-activated protein kinase 8 interacting protein 3 [Gene - OMIM - HGNC]
  • LOC106799915:nonconserved acetylation island sequence 122 enhancer [Gene]
  • PTX4:pentraxin 4 [Gene - OMIM - HGNC]
  • PIGQ:phosphatidylinositol glycan anchor biosynthesis class Q [Gene - OMIM - HGNC]
  • PGAP6:post-GPI attachment to proteins 6 [Gene - OMIM - HGNC]
  • PERCC1:proline and glutamate rich with coiled coil 1 [Gene - OMIM - HGNC]
  • PRR25:proline rich 25 [Gene - HGNC]
  • PRR35:proline rich 35 [Gene - HGNC]
  • PDIA2:protein disulfide isomerase family A member 2 [Gene - OMIM - HGNC]
  • RHOT2:ras homolog family member T2 [Gene - OMIM - HGNC]
  • RGS11:regulator of G protein signaling 11 [Gene - OMIM - HGNC]
  • RHBDF1:rhomboid 5 homolog 1 [Gene - OMIM - HGNC]
  • RHBDL1:rhomboid like 1 [Gene - OMIM - HGNC]
  • SNRNP25:small nuclear ribonucleoprotein U11/U12 subunit 25 [Gene - HGNC]
  • SSTR5:somatostatin receptor 5 [Gene - OMIM - HGNC]
  • TRG-CCC2-2:tRNA-Gly (anticodon CCC) 2-2 [Gene - HGNC]
  • TELO2:telomere maintenance 2 [Gene - OMIM - HGNC]
  • TMEM204:transmembrane protein 204 [Gene - OMIM - HGNC]
  • TPSAB1:tryptase alpha/beta 1 [Gene - OMIM - HGNC]
  • TPSB2:tryptase beta 2 [Gene - OMIM - HGNC]
  • TPSD1:tryptase delta 1 [Gene - OMIM - HGNC]
  • TPSG1:tryptase gamma 1 [Gene - OMIM - HGNC]
  • UQCC4:ubiquinol-cytochrome c reductase complex assembly factor 4 [Gene - OMIM - HGNC]
  • UBE2I:ubiquitin conjugating enzyme E2 I [Gene - OMIM - HGNC]
  • LOC100134368:uncharacterized LOC100134368 [Gene]
  • LOC100287175:uncharacterized LOC100287175 [Gene]
  • LOC101929440:uncharacterized LOC101929440 [Gene]
  • LOC105371038:uncharacterized LOC105371038 [Gene]
  • LOC105371046:uncharacterized LOC105371046 [Gene]
  • UNKL:unk like zinc finger [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
GRCh38/hg38 16p13.3(chr16:23141-1712523)x1
HGVS:
  • NC_000016.10:g.(?_23141)_(1712523_?)del
  • NC_000016.8:g.(?_13141)_(1702525_?)del
  • NC_000016.9:g.(?_73141)_(1762524_?)del
Links:
dbVar: nssv577528; dbVar: nsv531932
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
SCV000080610ISCA Site 6

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA Site 6, SCV000080610.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024