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GRCh38/hg38 6q24.2(chr6:143618974-144413183)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 14, 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:
RCV000141785.5

Allele description [Variation Report for GRCh38/hg38 6q24.2(chr6:143618974-144413183)x3]

GRCh38/hg38 6q24.2(chr6:143618974-144413183)x3

Genes:
  • LOC129997352:ATAC-STARR-seq lymphoblastoid active region 25204 [Gene]
  • LOC129997353:ATAC-STARR-seq lymphoblastoid active region 25205 [Gene]
  • LOC129997354:ATAC-STARR-seq lymphoblastoid active region 25206 [Gene]
  • LOC129997355:ATAC-STARR-seq lymphoblastoid active region 25207 [Gene]
  • LOC129997358:ATAC-STARR-seq lymphoblastoid active region 25208 [Gene]
  • LOC129997359:ATAC-STARR-seq lymphoblastoid active region 25209 [Gene]
  • LOC129997363:ATAC-STARR-seq lymphoblastoid active region 25210 [Gene]
  • LOC129997365:ATAC-STARR-seq lymphoblastoid active region 25211 [Gene]
  • LOC129997367:ATAC-STARR-seq lymphoblastoid active region 25213 [Gene]
  • LOC129997369:ATAC-STARR-seq lymphoblastoid active region 25214 [Gene]
  • LOC129997372:ATAC-STARR-seq lymphoblastoid active region 25215 [Gene]
  • LOC129997373:ATAC-STARR-seq lymphoblastoid active region 25216 [Gene]
  • LOC129997374:ATAC-STARR-seq lymphoblastoid active region 25217 [Gene]
  • LOC129997375:ATAC-STARR-seq lymphoblastoid active region 25218 [Gene]
  • LOC129997376:ATAC-STARR-seq lymphoblastoid active region 25219 [Gene]
  • LOC129997377:ATAC-STARR-seq lymphoblastoid active region 25220 [Gene]
  • LOC129997356:ATAC-STARR-seq lymphoblastoid silent region 17632 [Gene]
  • LOC129997357:ATAC-STARR-seq lymphoblastoid silent region 17633 [Gene]
  • LOC129997360:ATAC-STARR-seq lymphoblastoid silent region 17634 [Gene]
  • LOC129997361:ATAC-STARR-seq lymphoblastoid silent region 17635 [Gene]
  • LOC129997362:ATAC-STARR-seq lymphoblastoid silent region 17636 [Gene]
  • LOC129997364:ATAC-STARR-seq lymphoblastoid silent region 17637 [Gene]
  • LOC129997366:ATAC-STARR-seq lymphoblastoid silent region 17638 [Gene]
  • LOC129997368:ATAC-STARR-seq lymphoblastoid silent region 17639 [Gene]
  • LOC129997370:ATAC-STARR-seq lymphoblastoid silent region 17640 [Gene]
  • LOC129997371:ATAC-STARR-seq lymphoblastoid silent region 17641 [Gene]
  • LOC126859818:BRD4-independent group 4 enhancer GRCh37_chr6:144651868-144653067 [Gene]
  • LTV1:LTV1 ribosome biogenesis factor [Gene - OMIM - HGNC]
  • LOC129389670:MPRA-validated peak6179 silencer [Gene]
  • LOC129389671:MPRA-validated peak6180 silencer [Gene]
  • LOC129389672:MPRA-validated peak6181 silencer [Gene]
  • LOC129389673:MPRA-validated peak6182 silencer [Gene]
  • LOC129389674:MPRA-validated peak6183 silencer [Gene]
  • LOC129389675:MPRA-validated peak6184 silencer [Gene]
  • LOC132089371:Neanderthal introgressed variant-containing enhancer experimental_90719 [Gene]
  • PLAGL1:PLAG1 like zinc finger 1 [Gene - OMIM - HGNC]
  • LOC123864090:Sharpr-MPRA regulatory region 1397 [Gene]
  • LOC113146422:Sharpr-MPRA regulatory region 5218 [Gene]
  • LOC123864091:Sharpr-MPRA regulatory region 7657 [Gene]
  • HYMAI:hydatidiform mole associated and imprinted [Gene - OMIM - HGNC]
  • PHACTR2:phosphatase and actin regulator 2 [Gene - OMIM - HGNC]
  • SNORA98:small nucleolar RNA, H/ACA box 98 [Gene - HGNC]
  • SF3B5:splicing factor 3b subunit 5 [Gene - OMIM - HGNC]
  • STX11:syntaxin 11 [Gene - OMIM - HGNC]
  • TRL-TAA1-1:tRNA-Leu (anticodon TAA) 1-1 [Gene - HGNC]
  • UTRN:utrophin [Gene - OMIM - HGNC]
  • ZC2HC1B:zinc finger C2HC-type containing 1B [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
6q24.2
Genomic location:
Preferred name:
GRCh38/hg38 6q24.2(chr6:143618974-144413183)x3
HGVS:
  • NC_000006.12:g.(?_143618974)_(144413183_?)dup
  • NC_000006.11:g.(?_143940111)_(144734319_?)dup
Links:
dbVar: nssv3396927; dbVar: nsv995358
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
SCV000182782ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(May 14, 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 1, SCV000182782.4

#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