U.S. flag

An official website of the United States government

GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)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:
RCV000142774.4

Allele description

GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1

Genes:
  • LOC130056432:ATAC-STARR-seq lymphoblastoid active region 9011 [Gene]
  • LOC130056435:ATAC-STARR-seq lymphoblastoid active region 9012 [Gene]
  • LOC130056436:ATAC-STARR-seq lymphoblastoid active region 9013 [Gene]
  • LOC130056437:ATAC-STARR-seq lymphoblastoid active region 9014 [Gene]
  • LOC130056438:ATAC-STARR-seq lymphoblastoid active region 9015 [Gene]
  • LOC130056439:ATAC-STARR-seq lymphoblastoid active region 9016 [Gene]
  • LOC130056440:ATAC-STARR-seq lymphoblastoid active region 9017 [Gene]
  • LOC130056441:ATAC-STARR-seq lymphoblastoid active region 9018 [Gene]
  • LOC130056442:ATAC-STARR-seq lymphoblastoid active region 9021 [Gene]
  • LOC130056443:ATAC-STARR-seq lymphoblastoid active region 9022 [Gene]
  • LOC130056444:ATAC-STARR-seq lymphoblastoid active region 9024 [Gene]
  • LOC130056445:ATAC-STARR-seq lymphoblastoid active region 9025 [Gene]
  • LOC130056451:ATAC-STARR-seq lymphoblastoid active region 9029 [Gene]
  • LOC130056454:ATAC-STARR-seq lymphoblastoid active region 9030 [Gene]
  • LOC130056459:ATAC-STARR-seq lymphoblastoid active region 9031 [Gene]
  • LOC130056460:ATAC-STARR-seq lymphoblastoid active region 9032 [Gene]
  • LOC130056461:ATAC-STARR-seq lymphoblastoid active region 9033 [Gene]
  • LOC130056465:ATAC-STARR-seq lymphoblastoid active region 9034 [Gene]
  • LOC130056466:ATAC-STARR-seq lymphoblastoid active region 9035 [Gene]
  • LOC130056467:ATAC-STARR-seq lymphoblastoid active region 9037 [Gene]
  • LOC130056468:ATAC-STARR-seq lymphoblastoid active region 9038 [Gene]
  • LOC130056469:ATAC-STARR-seq lymphoblastoid active region 9039 [Gene]
  • LOC130056470:ATAC-STARR-seq lymphoblastoid active region 9040 [Gene]
  • LOC130056473:ATAC-STARR-seq lymphoblastoid active region 9041 [Gene]
  • LOC130056433:ATAC-STARR-seq lymphoblastoid silent region 6071 [Gene]
  • LOC130056434:ATAC-STARR-seq lymphoblastoid silent region 6072 [Gene]
  • LOC130056446:ATAC-STARR-seq lymphoblastoid silent region 6073 [Gene]
  • LOC130056447:ATAC-STARR-seq lymphoblastoid silent region 6074 [Gene]
  • LOC130056448:ATAC-STARR-seq lymphoblastoid silent region 6075 [Gene]
  • LOC130056449:ATAC-STARR-seq lymphoblastoid silent region 6076 [Gene]
  • LOC130056450:ATAC-STARR-seq lymphoblastoid silent region 6077 [Gene]
  • LOC130056452:ATAC-STARR-seq lymphoblastoid silent region 6081 [Gene]
  • LOC130056453:ATAC-STARR-seq lymphoblastoid silent region 6082 [Gene]
  • LOC130056455:ATAC-STARR-seq lymphoblastoid silent region 6083 [Gene]
  • LOC130056456:ATAC-STARR-seq lymphoblastoid silent region 6084 [Gene]
  • LOC130056457:ATAC-STARR-seq lymphoblastoid silent region 6085 [Gene]
  • LOC130056458:ATAC-STARR-seq lymphoblastoid silent region 6086 [Gene]
  • LOC130056462:ATAC-STARR-seq lymphoblastoid silent region 6087 [Gene]
  • LOC130056463:ATAC-STARR-seq lymphoblastoid silent region 6088 [Gene]
  • LOC130056464:ATAC-STARR-seq lymphoblastoid silent region 6089 [Gene]
  • LOC130056471:ATAC-STARR-seq lymphoblastoid silent region 6090 [Gene]
  • LOC130056472:ATAC-STARR-seq lymphoblastoid silent region 6091 [Gene]
  • LOC130056474:ATAC-STARR-seq lymphoblastoid silent region 6092 [Gene]
  • LOC126862047:BRD4-independent group 4 enhancer GRCh37_chr14:100405395-100406594 [Gene]
  • LOC112163681:BRD4-independent group 4 enhancer GRCh37_chr14:100863901-100865100 [Gene]
  • LOC126862048:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:100904917-100906116 [Gene]
  • LOC126862051:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:101221473-101222672 [Gene]
  • EML1:EMAP like 1 [Gene - OMIM - HGNC]
  • EVL:Enah/Vasp-like [Gene - OMIM - HGNC]
  • LOC112163680:MED14-independent group 3 enhancer GRCh37_chr14:100534710-100535909 [Gene]
  • LOC126862052:MED14-independent group 3 enhancer GRCh37_chr14:101454444-101455643 [Gene]
  • LOC132090206:Neanderthal introgressed variant-containing enhancer experimental_33583 [Gene]
  • LOC132090207:Neanderthal introgressed variant-containing enhancer experimental_33586 [Gene]
  • LOC132090208:Neanderthal introgressed variant-containing enhancer experimental_33596 [Gene]
  • LOC132090209:Neanderthal introgressed variant-containing enhancer experimental_33604 [Gene]
  • LOC126862049:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:101126859-101128058 [Gene]
  • LOC126862050:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:101158852-101160051 [Gene]
  • LOC126862053:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:101467025-101468224 [Gene]
  • LOC112163682:Sharpr-MPRA regulatory region 10698 [Gene]
  • LOC125078038:Sharpr-MPRA regulatory region 12420 [Gene]
  • LOC125078039:Sharpr-MPRA regulatory region 13483 [Gene]
  • LOC125078036:Sharpr-MPRA regulatory region 1879 [Gene]
  • LOC125078037:Sharpr-MPRA regulatory region 8458 [Gene]
  • WDR25:WD repeat domain 25 [Gene - OMIM - HGNC]
  • YY1:YY1 transcription factor [Gene - OMIM - HGNC]
  • BEGAIN:brain enriched guanylate kinase associated [Gene - OMIM - HGNC]
  • DEGS2:delta 4-desaturase, sphingolipid 2 [Gene - OMIM - HGNC]
  • DLK1:delta like non-canonical Notch ligand 1 [Gene - OMIM - HGNC]
  • LINC00523:long intergenic non-protein coding RNA 523 [Gene - HGNC]
  • MEG3:maternally expressed 3 [Gene - OMIM - HGNC]
  • MEG8:maternally expressed 8, small nucleolar RNA host gene [Gene - OMIM - HGNC]
  • MIR127:microRNA 127 [Gene - OMIM - HGNC]
  • MIR136:microRNA 136 [Gene - OMIM - HGNC]
  • MIR151B:microRNA 151b [Gene - HGNC]
  • MIR2392:microRNA 2392 [Gene - HGNC]
  • MIR337:microRNA 337 [Gene - OMIM - HGNC]
  • MIR342:microRNA 342 [Gene - HGNC]
  • MIR345:microRNA 345 [Gene - HGNC]
  • MIR370:microRNA 370 [Gene - OMIM - HGNC]
  • MIR379:microRNA 379 [Gene - OMIM - HGNC]
  • MIR431:microRNA 431 [Gene - OMIM - HGNC]
  • MIR432:microRNA 432 [Gene - HGNC]
  • MIR433:microRNA 433 [Gene - OMIM - HGNC]
  • MIR493:microRNA 493 [Gene - HGNC]
  • MIR665:microRNA 665 [Gene - HGNC]
  • MIR6764:microRNA 6764 [Gene - HGNC]
  • MIR770:microRNA 770 [Gene - HGNC]
  • RTL1:retrotransposon Gag like 1 [Gene - OMIM - HGNC]
  • SNORD112:small nucleolar RNA, C/D box 112 [Gene - OMIM - HGNC]
  • SNORD113-1:small nucleolar RNA, C/D box 113-1 [Gene - OMIM - HGNC]
  • SNORD113-2:small nucleolar RNA, C/D box 113-2 [Gene - HGNC]
  • SNORD113-3:small nucleolar RNA, C/D box 113-3 [Gene - HGNC]
  • SNORD113-4:small nucleolar RNA, C/D box 113-4 [Gene - HGNC]
  • SNORD113-5:small nucleolar RNA, C/D box 113-5 [Gene - HGNC]
  • SNORD113-6:small nucleolar RNA, C/D box 113-6 [Gene - HGNC]
  • SNORD113-7:small nucleolar RNA, C/D box 113-7 [Gene - HGNC]
  • SNORD113-8:small nucleolar RNA, C/D box 113-8 [Gene - HGNC]
  • SNORD113-9:small nucleolar RNA, C/D box 113-9 [Gene - HGNC]
  • SNORD114-10:small nucleolar RNA, C/D box 114-10 [Gene - HGNC]
  • SNORD114-11:small nucleolar RNA, C/D box 114-11 [Gene - HGNC]
  • SNORD114-12:small nucleolar RNA, C/D box 114-12 [Gene - HGNC]
  • SNORD114-13:small nucleolar RNA, C/D box 114-13 [Gene - HGNC]
  • SNORD114-14:small nucleolar RNA, C/D box 114-14 [Gene - HGNC]
  • SNORD114-15:small nucleolar RNA, C/D box 114-15 [Gene - HGNC]
  • SNORD114-16:small nucleolar RNA, C/D box 114-16 [Gene - HGNC]
  • SNORD114-17:small nucleolar RNA, C/D box 114-17 [Gene - HGNC]
  • SNORD114-18:small nucleolar RNA, C/D box 114-18 [Gene - HGNC]
  • SNORD114-19:small nucleolar RNA, C/D box 114-19 [Gene - HGNC]
  • SNORD114-1:small nucleolar RNA, C/D box 114-1 [Gene - OMIM - HGNC]
  • SNORD114-20:small nucleolar RNA, C/D box 114-20 [Gene - HGNC]
  • SNORD114-21:small nucleolar RNA, C/D box 114-21 [Gene - HGNC]
  • SNORD114-22:small nucleolar RNA, C/D box 114-22 [Gene - HGNC]
  • SNORD114-23:small nucleolar RNA, C/D box 114-23 [Gene - HGNC]
  • SNORD114-24:small nucleolar RNA, C/D box 114-24 [Gene - HGNC]
  • SNORD114-25:small nucleolar RNA, C/D box 114-25 [Gene - HGNC]
  • SNORD114-26:small nucleolar RNA, C/D box 114-26 [Gene - HGNC]
  • SNORD114-27:small nucleolar RNA, C/D box 114-27 [Gene - HGNC]
  • SNORD114-28:small nucleolar RNA, C/D box 114-28 [Gene - HGNC]
  • SNORD114-29:small nucleolar RNA, C/D box 114-29 [Gene - HGNC]
  • SNORD114-2:small nucleolar RNA, C/D box 114-2 [Gene - HGNC]
  • SNORD114-30:small nucleolar RNA, C/D box 114-30 [Gene - HGNC]
  • SNORD114-31:small nucleolar RNA, C/D box 114-31 [Gene - HGNC]
  • SNORD114-3:small nucleolar RNA, C/D box 114-3 [Gene - HGNC]
  • SNORD114-4:small nucleolar RNA, C/D box 114-4 [Gene - HGNC]
  • SNORD114-5:small nucleolar RNA, C/D box 114-5 [Gene - HGNC]
  • SNORD114-6:small nucleolar RNA, C/D box 114-6 [Gene - HGNC]
  • SNORD114-7:small nucleolar RNA, C/D box 114-7 [Gene - HGNC]
  • SNORD114-8:small nucleolar RNA, C/D box 114-8 [Gene - HGNC]
  • SNORD114-9:small nucleolar RNA, C/D box 114-9 [Gene - HGNC]
  • SLC25A29:solute carrier family 25 member 29 [Gene - OMIM - HGNC]
  • SLC25A47:solute carrier family 25 member 47 [Gene - OMIM - HGNC]
  • WARS1:tryptophanyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
14q32.2-32.31
Genomic location:
Preferred name:
GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1
HGVS:
  • NC_000014.9:g.(?_99930669)_(101022599_?)del
  • NC_000014.7:g.(?_99466759)_(100558689_?)del
  • NC_000014.8:g.(?_100397006)_(101488936_?)del
Links:
dbVar: nssv583216; dbVar: nsv534597
Observations:
1

Condition(s)

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

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
SCV000177374ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		not providedclinical 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

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, SCV000177374.4

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

Last Updated: Oct 14, 2023