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GRCh38/hg38 20p13(chr20:3177313-3849958)x1 AND See cases

Germline classification:
Uncertain significance (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:
RCV000142590.5

Allele description [Variation Report for GRCh38/hg38 20p13(chr20:3177313-3849958)x1]

GRCh38/hg38 20p13(chr20:3177313-3849958)x1

Genes:
  • ADAM33:ADAM metallopeptidase domain 33 [Gene - OMIM - HGNC]
  • LOC130065321:ATAC-STARR-seq lymphoblastoid active region 17476 [Gene]
  • LOC130065328:ATAC-STARR-seq lymphoblastoid active region 17478 [Gene]
  • LOC130065329:ATAC-STARR-seq lymphoblastoid active region 17479 [Gene]
  • LOC130065330:ATAC-STARR-seq lymphoblastoid active region 17480 [Gene]
  • LOC130065332:ATAC-STARR-seq lymphoblastoid active region 17481 [Gene]
  • LOC130065336:ATAC-STARR-seq lymphoblastoid active region 17482 [Gene]
  • LOC130065341:ATAC-STARR-seq lymphoblastoid active region 17487 [Gene]
  • LOC130065322:ATAC-STARR-seq lymphoblastoid silent region 12615 [Gene]
  • LOC130065323:ATAC-STARR-seq lymphoblastoid silent region 12616 [Gene]
  • LOC130065324:ATAC-STARR-seq lymphoblastoid silent region 12617 [Gene]
  • LOC130065325:ATAC-STARR-seq lymphoblastoid silent region 12618 [Gene]
  • LOC130065326:ATAC-STARR-seq lymphoblastoid silent region 12619 [Gene]
  • LOC130065327:ATAC-STARR-seq lymphoblastoid silent region 12620 [Gene]
  • LOC130065331:ATAC-STARR-seq lymphoblastoid silent region 12621 [Gene]
  • LOC130065333:ATAC-STARR-seq lymphoblastoid silent region 12622 [Gene]
  • LOC130065334:ATAC-STARR-seq lymphoblastoid silent region 12623 [Gene]
  • LOC130065335:ATAC-STARR-seq lymphoblastoid silent region 12624 [Gene]
  • LOC130065337:ATAC-STARR-seq lymphoblastoid silent region 12627 [Gene]
  • LOC130065338:ATAC-STARR-seq lymphoblastoid silent region 12629 [Gene]
  • LOC130065339:ATAC-STARR-seq lymphoblastoid silent region 12630 [Gene]
  • LOC130065340:ATAC-STARR-seq lymphoblastoid silent region 12631 [Gene]
  • LOC130065342:ATAC-STARR-seq lymphoblastoid silent region 12632 [Gene]
  • LOC130065343:ATAC-STARR-seq lymphoblastoid silent region 12633 [Gene]
  • DDRGK1:DDRGK domain containing 1 [Gene - OMIM - HGNC]
  • GFRA4:GDNF family receptor alpha 4 [Gene - OMIM - HGNC]
  • LOC111365169:NFE2L2 motif-containing MPRA enhancer 155/156 [Gene]
  • LOC132090574:Neanderthal introgressed variant-containing enhancer experimental_60092 [Gene]
  • LOC126862955:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:3782484-3783683 [Gene]
  • LOC106799846:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:3791796-3792995 [Gene]
  • LOC112694698:Sharpr-MPRA regulatory region 2213 [Gene]
  • LOC112694699:Sharpr-MPRA regulatory region 3723 [Gene]
  • LOC112694697:Sharpr-MPRA regulatory region 3812 [Gene]
  • LOC125384565:Sharpr-MPRA regulatory region 8683 [Gene]
  • AP5S1:adaptor related protein complex 5 subunit sigma 1 [Gene - OMIM - HGNC]
  • ADISSP:adipose secreted signaling protein [Gene - OMIM - HGNC]
  • ATRN:attractin [Gene - OMIM - HGNC]
  • CDC25B:cell division cycle 25B [Gene - OMIM - HGNC]
  • CENPB:centromere protein B [Gene - OMIM - HGNC]
  • DNAAF9:dynein axonemal assembly factor 9 [Gene - OMIM - HGNC]
  • HSPA12B:heat shock protein family A (Hsp70) member 12B [Gene - OMIM - HGNC]
  • ITPA:inosine triphosphatase [Gene - OMIM - HGNC]
  • LINC01730:long intergenic non-protein coding RNA 1730 [Gene - HGNC]
  • MAVS:mitochondrial antiviral signaling protein [Gene - OMIM - HGNC]
  • SIGLEC1:sialic acid binding Ig like lectin 1 [Gene - OMIM - HGNC]
  • SLC4A11:solute carrier family 4 member 11 [Gene - OMIM - HGNC]
  • SPEF1:sperm flagellar 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
20p13
Genomic location:
Preferred name:
GRCh38/hg38 20p13(chr20:3177313-3849958)x1
HGVS:
  • NC_000020.11:g.(?_3177313)_(3849958_?)del
  • NC_000020.10:g.(?_3157959)_(3830605_?)del
  • NC_000020.9:g.(?_3105959)_(3778605_?)del
Links:
dbVar: nssv582748; dbVar: nsv533076
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
SCV000175801ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Dec 22, 2010) 		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

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, SCV000175801.4

#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