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GRCh38/hg38 6q24.3-25.1(chr6:148112335-149649984)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 16, 2011
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:
RCV000136969.4

Allele description [Variation Report for GRCh38/hg38 6q24.3-25.1(chr6:148112335-149649984)x1]

GRCh38/hg38 6q24.3-25.1(chr6:148112335-149649984)x1

Genes:
  • LOC129997397:ATAC-STARR-seq lymphoblastoid active region 25234 [Gene]
  • LOC129997398:ATAC-STARR-seq lymphoblastoid active region 25235 [Gene]
  • LOC129997399:ATAC-STARR-seq lymphoblastoid active region 25236 [Gene]
  • LOC129997400:ATAC-STARR-seq lymphoblastoid active region 25237 [Gene]
  • LOC129997403:ATAC-STARR-seq lymphoblastoid active region 25238 [Gene]
  • LOC129997404:ATAC-STARR-seq lymphoblastoid active region 25239 [Gene]
  • LOC129997407:ATAC-STARR-seq lymphoblastoid active region 25240 [Gene]
  • LOC129997408:ATAC-STARR-seq lymphoblastoid active region 25241 [Gene]
  • LOC129997409:ATAC-STARR-seq lymphoblastoid active region 25242 [Gene]
  • LOC129997410:ATAC-STARR-seq lymphoblastoid active region 25243 [Gene]
  • LOC129997411:ATAC-STARR-seq lymphoblastoid active region 25244 [Gene]
  • LOC129997412:ATAC-STARR-seq lymphoblastoid active region 25245 [Gene]
  • LOC129997413:ATAC-STARR-seq lymphoblastoid active region 25246 [Gene]
  • LOC129997415:ATAC-STARR-seq lymphoblastoid active region 25247 [Gene]
  • LOC129997416:ATAC-STARR-seq lymphoblastoid active region 25248 [Gene]
  • LOC129997417:ATAC-STARR-seq lymphoblastoid active region 25249 [Gene]
  • LOC129997418:ATAC-STARR-seq lymphoblastoid active region 25250 [Gene]
  • LOC129997419:ATAC-STARR-seq lymphoblastoid active region 25251 [Gene]
  • LOC129997424:ATAC-STARR-seq lymphoblastoid active region 25252 [Gene]
  • LOC129997425:ATAC-STARR-seq lymphoblastoid active region 25253 [Gene]
  • LOC129997426:ATAC-STARR-seq lymphoblastoid active region 25254 [Gene]
  • LOC129997427:ATAC-STARR-seq lymphoblastoid active region 25255 [Gene]
  • LOC129997428:ATAC-STARR-seq lymphoblastoid active region 25256 [Gene]
  • LOC129997430:ATAC-STARR-seq lymphoblastoid active region 25258 [Gene]
  • LOC129997431:ATAC-STARR-seq lymphoblastoid active region 25260 [Gene]
  • LOC129997432:ATAC-STARR-seq lymphoblastoid active region 25262 [Gene]
  • LOC129997434:ATAC-STARR-seq lymphoblastoid active region 25263 [Gene]
  • LOC129997436:ATAC-STARR-seq lymphoblastoid active region 25264 [Gene]
  • LOC129997437:ATAC-STARR-seq lymphoblastoid active region 25265 [Gene]
  • LOC129997438:ATAC-STARR-seq lymphoblastoid active region 25266 [Gene]
  • LOC129997396:ATAC-STARR-seq lymphoblastoid silent region 17651 [Gene]
  • LOC129997401:ATAC-STARR-seq lymphoblastoid silent region 17652 [Gene]
  • LOC129997402:ATAC-STARR-seq lymphoblastoid silent region 17653 [Gene]
  • LOC129997405:ATAC-STARR-seq lymphoblastoid silent region 17654 [Gene]
  • LOC129997406:ATAC-STARR-seq lymphoblastoid silent region 17655 [Gene]
  • LOC129997414:ATAC-STARR-seq lymphoblastoid silent region 17656 [Gene]
  • LOC129997420:ATAC-STARR-seq lymphoblastoid silent region 17657 [Gene]
  • LOC129997421:ATAC-STARR-seq lymphoblastoid silent region 17658 [Gene]
  • LOC129997422:ATAC-STARR-seq lymphoblastoid silent region 17659 [Gene]
  • LOC129997423:ATAC-STARR-seq lymphoblastoid silent region 17660 [Gene]
  • LOC129997429:ATAC-STARR-seq lymphoblastoid silent region 17661 [Gene]
  • LOC129997433:ATAC-STARR-seq lymphoblastoid silent region 17662 [Gene]
  • LOC129997435:ATAC-STARR-seq lymphoblastoid silent region 17663 [Gene]
  • LOC129997439:ATAC-STARR-seq lymphoblastoid silent region 17664 [Gene]
  • LOC126859826:BRD4-independent group 4 enhancer GRCh37_chr6:149394281-149395480 [Gene]
  • LOC126859827:BRD4-independent group 4 enhancer GRCh37_chr6:149699707-149700906 [Gene]
  • LOC126859825:MED14-independent group 3 enhancer GRCh37_chr6:149194421-149195620 [Gene]
  • LOC129389682:MPRA-validated peak6206 silencer [Gene]
  • LOC129389683:MPRA-validated peak6208 silencer [Gene]
  • LOC129389684:MPRA-validated peak6209 silencer [Gene]
  • LOC129389685:MPRA-validated peak6210 silencer [Gene]
  • LOC129389686:MPRA-validated peak6211 silencer [Gene]
  • LOC113146423:OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:148920936-148921524 [Gene]
  • LOC126859824:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:148467567-148468766 [Gene]
  • SASH1:SAM and SH3 domain containing 1 [Gene - OMIM - HGNC]
  • LOC123881328:Sharpr-MPRA regulatory region 12512 [Gene]
  • LOC123881325:Sharpr-MPRA regulatory region 1441 [Gene]
  • LOC121132710:Sharpr-MPRA regulatory region 6687 [Gene]
  • LOC123881326:Sharpr-MPRA regulatory region 8239 [Gene]
  • LOC123881327:Sharpr-MPRA regulatory region 942 [Gene]
  • TAB2-AS1:TAB2 antisense RNA 1 [Gene - HGNC]
  • TAB2:TGF-beta activated kinase 1 (MAP3K7) binding protein 2 [Gene - OMIM - HGNC]
  • UST-AS1:UST antisense RNA 1 [Gene - HGNC]
  • UST-AS2:UST antisense RNA 2 [Gene - HGNC]
  • GINM1:glycosylated integral membrane protein 1 [Gene - HGNC]
  • KATNA1:katanin catalytic subunit A1 [Gene - OMIM - HGNC]
  • LOC107403234:meiotic recombination hotspot D [Gene]
  • PPIL4:peptidylprolyl isomerase like 4 [Gene - OMIM - HGNC]
  • SUMO4:small ubiquitin like modifier 4 [Gene - OMIM - HGNC]
  • UST:uronyl 2-sulfotransferase [Gene - OMIM - HGNC]
  • ZC3H12D:zinc finger CCCH-type containing 12D [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
6q24.3-25.1
Genomic location:
Preferred name:
GRCh38/hg38 6q24.3-25.1(chr6:148112335-149649984)x1
HGVS:
  • NC_000006.12:g.(?_148112335)_(149649984_?)del
  • NC_000006.10:g.(?_148475164)_(150012813_?)del
  • NC_000006.11:g.(?_148433471)_(149971120_?)del
Links:
dbVar: nssv582364; dbVar: nsv534356
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
SCV000177132ISCA site 2

See additional submitters

no assertion criteria provided
Pathogenic
(Sep 16, 2011) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not 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 2, SCV000177132.3

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

Last Updated: Oct 14, 2023