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GRCh38/hg38 8p23.1(chr8:8764178-11063564)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 6, 2013
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:
RCV000141557.7

Allele description [Variation Report for GRCh38/hg38 8p23.1(chr8:8764178-11063564)x3]

GRCh38/hg38 8p23.1(chr8:8764178-11063564)x3

Genes:
  • LOC129999828:ATAC-STARR-seq lymphoblastoid active region 26977 [Gene]
  • LOC129999830:ATAC-STARR-seq lymphoblastoid active region 26978 [Gene]
  • LOC129999831:ATAC-STARR-seq lymphoblastoid active region 26979 [Gene]
  • LOC129999834:ATAC-STARR-seq lymphoblastoid active region 26980 [Gene]
  • LOC129999835:ATAC-STARR-seq lymphoblastoid active region 26981 [Gene]
  • LOC129999837:ATAC-STARR-seq lymphoblastoid active region 26982 [Gene]
  • LOC129999838:ATAC-STARR-seq lymphoblastoid active region 26983 [Gene]
  • LOC129999839:ATAC-STARR-seq lymphoblastoid active region 26984 [Gene]
  • LOC129999840:ATAC-STARR-seq lymphoblastoid active region 26985 [Gene]
  • LOC129999841:ATAC-STARR-seq lymphoblastoid active region 26986 [Gene]
  • LOC129999843:ATAC-STARR-seq lymphoblastoid active region 26987 [Gene]
  • LOC129999844:ATAC-STARR-seq lymphoblastoid active region 26988 [Gene]
  • LOC129999847:ATAC-STARR-seq lymphoblastoid active region 26989 [Gene]
  • LOC129999848:ATAC-STARR-seq lymphoblastoid active region 26990 [Gene]
  • LOC129999849:ATAC-STARR-seq lymphoblastoid active region 26991 [Gene]
  • LOC129999850:ATAC-STARR-seq lymphoblastoid active region 26992 [Gene]
  • LOC129999851:ATAC-STARR-seq lymphoblastoid active region 26993 [Gene]
  • LOC129999854:ATAC-STARR-seq lymphoblastoid active region 26997 [Gene]
  • LOC129999829:ATAC-STARR-seq lymphoblastoid silent region 18901 [Gene]
  • LOC129999832:ATAC-STARR-seq lymphoblastoid silent region 18903 [Gene]
  • LOC129999833:ATAC-STARR-seq lymphoblastoid silent region 18904 [Gene]
  • LOC129999836:ATAC-STARR-seq lymphoblastoid silent region 18906 [Gene]
  • LOC129999842:ATAC-STARR-seq lymphoblastoid silent region 18908 [Gene]
  • LOC129999845:ATAC-STARR-seq lymphoblastoid silent region 18909 [Gene]
  • LOC129999846:ATAC-STARR-seq lymphoblastoid silent region 18910 [Gene]
  • LOC129999852:ATAC-STARR-seq lymphoblastoid silent region 18914 [Gene]
  • LOC129999853:ATAC-STARR-seq lymphoblastoid silent region 18915 [Gene]
  • LOC129999855:ATAC-STARR-seq lymphoblastoid silent region 18917 [Gene]
  • LOC129999856:ATAC-STARR-seq lymphoblastoid silent region 18918 [Gene]
  • LOC129999857:ATAC-STARR-seq lymphoblastoid silent region 18919 [Gene]
  • LOC129999858:ATAC-STARR-seq lymphoblastoid silent region 18920 [Gene]
  • LOC126860300:BRD4-independent group 4 enhancer GRCh37_chr8:9240606-9241805 [Gene]
  • CRE3:CRE3 CAGE-defined tissue-specific enhancer [Gene]
  • MIR124-1HG:MIR124-1 host gene [Gene - HGNC]
  • LOC129389954:MPRA-validated peak6897 silencer [Gene]
  • LOC129389955:MPRA-validated peak6901 silencer [Gene]
  • LOC126860299:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:9046079-9047278 [Gene]
  • PINX1:PIN2 (TERF1) interacting telomerase inhibitor 1 [Gene - OMIM - HGNC]
  • PINX1-DT:PINX1 divergent transcript [Gene - HGNC]
  • PPP1R3B-DT:PPP1R3B divergent transcript [Gene - HGNC]
  • RP1L1:RP1 like 1 [Gene - OMIM - HGNC]
  • SOX7:SRY-box transcription factor 7 [Gene - OMIM - HGNC]
  • LOC113788294:Sharpr-MPRA regulatory region 10847 [Gene]
  • LOC124049160:Sharpr-MPRA regulatory region 1187 [Gene]
  • LOC121268919:Sharpr-MPRA regulatory region 4717 [Gene]
  • LOC124049162:Sharpr-MPRA regulatory region 719 [Gene]
  • LOC124049161:Sharpr-MPRA regulatory region 9732 [Gene]
  • XKR6:XK related 6 [Gene - HGNC]
  • C8orf74:chromosome 8 open reading frame 74 [Gene - HGNC]
  • ERI1:exoribonuclease 1 [Gene - OMIM - HGNC]
  • LINC03022:long intergenic non-protein coding RNA 3022 [Gene - HGNC]
  • MSRA:methionine sulfoxide reductase A [Gene - OMIM - HGNC]
  • MIR124-1:microRNA 124-1 [Gene - OMIM - HGNC]
  • MIR1322:microRNA 1322 [Gene - HGNC]
  • MIR4286:microRNA 4286 [Gene - HGNC]
  • MIR4660:microRNA 4660 [Gene - HGNC]
  • MIR597:microRNA 597 [Gene - HGNC]
  • MIR598:microRNA 598 [Gene - HGNC]
  • MFHAS1:multifunctional ROCO family signaling regulator 1 [Gene - OMIM - HGNC]
  • PPP1R3B:protein phosphatase 1 regulatory subunit 3B [Gene - OMIM - HGNC]
  • PRSS51:serine protease 51 [Gene - HGNC]
  • PRSS55:serine protease 55 [Gene - OMIM - HGNC]
  • SNORD3I:small nucleolar RNA, C/D box 3I [Gene - HGNC]
  • TNKS:tankyrase [Gene - OMIM - HGNC]
  • LOC101929128:uncharacterized LOC101929128 [Gene]
  • LOC101929269:uncharacterized LOC101929269 [Gene]
  • LOC102723313:uncharacterized LOC102723313 [Gene]
  • LOC105379230:uncharacterized LOC105379230 [Gene]
  • LOC157273:uncharacterized LOC157273 [Gene]
Variant type:
copy number gain
Cytogenetic location:
8p23.1
Genomic location:
Preferred name:
GRCh38/hg38 8p23.1(chr8:8764178-11063564)x3
HGVS:
  • NC_000008.11:g.(?_8764178)_(11063564_?)dup
  • NC_000008.10:g.(?_8621688)_(10921074_?)dup
  • NC_000008.9:g.(?_8659098)_(10958484_?)dup
Links:
dbVar: nssv3395742; dbVar: nsv995055
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
SCV000182474ISCA site 10

See additional submitters

no assertion criteria provided
Pathogenic
(Feb 6, 2013) 		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 10, SCV000182474.3

#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