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GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)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:
RCV000137236.6

Allele description [Variation Report for GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1]

GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1

Genes:
  • LOC129998006:ATAC-STARR-seq lymphoblastoid active region 25669 [Gene]
  • LOC129998007:ATAC-STARR-seq lymphoblastoid active region 25670 [Gene]
  • LOC129998008:ATAC-STARR-seq lymphoblastoid active region 25671 [Gene]
  • LOC129998009:ATAC-STARR-seq lymphoblastoid active region 25672 [Gene]
  • LOC129998014:ATAC-STARR-seq lymphoblastoid active region 25675 [Gene]
  • LOC129998015:ATAC-STARR-seq lymphoblastoid active region 25676 [Gene]
  • LOC129998016:ATAC-STARR-seq lymphoblastoid active region 25677 [Gene]
  • LOC129998017:ATAC-STARR-seq lymphoblastoid active region 25678 [Gene]
  • LOC129998018:ATAC-STARR-seq lymphoblastoid active region 25679 [Gene]
  • LOC129998019:ATAC-STARR-seq lymphoblastoid active region 25680 [Gene]
  • LOC129998021:ATAC-STARR-seq lymphoblastoid active region 25682 [Gene]
  • LOC129998022:ATAC-STARR-seq lymphoblastoid active region 25685 [Gene]
  • LOC129998024:ATAC-STARR-seq lymphoblastoid active region 25686 [Gene]
  • LOC129998025:ATAC-STARR-seq lymphoblastoid active region 25687 [Gene]
  • LOC129998026:ATAC-STARR-seq lymphoblastoid active region 25688 [Gene]
  • LOC129998028:ATAC-STARR-seq lymphoblastoid active region 25691 [Gene]
  • LOC129998029:ATAC-STARR-seq lymphoblastoid active region 25692 [Gene]
  • LOC129998030:ATAC-STARR-seq lymphoblastoid active region 25693 [Gene]
  • LOC129998031:ATAC-STARR-seq lymphoblastoid active region 25694 [Gene]
  • LOC129998004:ATAC-STARR-seq lymphoblastoid silent region 17981 [Gene]
  • LOC129998005:ATAC-STARR-seq lymphoblastoid silent region 17982 [Gene]
  • LOC129998010:ATAC-STARR-seq lymphoblastoid silent region 17983 [Gene]
  • LOC129998011:ATAC-STARR-seq lymphoblastoid silent region 17984 [Gene]
  • LOC129998012:ATAC-STARR-seq lymphoblastoid silent region 17985 [Gene]
  • LOC129998013:ATAC-STARR-seq lymphoblastoid silent region 17986 [Gene]
  • LOC129998020:ATAC-STARR-seq lymphoblastoid silent region 17987 [Gene]
  • LOC129998023:ATAC-STARR-seq lymphoblastoid silent region 17988 [Gene]
  • LOC129998027:ATAC-STARR-seq lymphoblastoid silent region 17989 [Gene]
  • LOC129998032:ATAC-STARR-seq lymphoblastoid silent region 17990 [Gene]
  • LOC129998033:ATAC-STARR-seq lymphoblastoid silent region 17991 [Gene]
  • LOC126859955:BRD4-independent group 4 enhancer GRCh37_chr7:19183777-19184976 [Gene]
  • CRPPA:CDP-L-ribitol pyrophosphorylase A [Gene - OMIM - HGNC]
  • CRPPA-AS1:CRPPA antisense RNA 1 [Gene - HGNC]
  • FERD3L:Fer3 like bHLH transcription factor [Gene - OMIM - HGNC]
  • LOC111591502:GATA motif-containing MPRA enhancer 275 [Gene]
  • HDAC9-AS1:HDAC9 antisense RNA 1 [Gene - HGNC]
  • ITGB8-AS1:ITGB8 antisense RNA 1 [Gene - HGNC]
  • MACC1-AS1:MACC1 antisense RNA 1 [Gene - HGNC]
  • LOC126859951:MED14-independent group 3 enhancer GRCh37_chr7:17411084-17412283 [Gene]
  • LOC126859953:MED14-independent group 3 enhancer GRCh37_chr7:18459909-18461108 [Gene]
  • LOC126859957:MED14-independent group 3 enhancer GRCh37_chr7:20434600-20435799 [Gene]
  • MACC1:MET transcriptional regulator MACC1 [Gene - OMIM - HGNC]
  • LOC129389758:MPRA-validated peak6411 silencer [Gene]
  • LOC129389759:MPRA-validated peak6414 silencer [Gene]
  • LOC129389760:MPRA-validated peak6415 silencer [Gene]
  • LOC129389761:MPRA-validated peak6419 silencer [Gene]
  • LOC129389762:MPRA-validated peak6420 silencer [Gene]
  • LOC132089521:Neanderthal introgressed variant-containing enhancer experimental_98149 [Gene]
  • LOC126859950:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:17273731-17274930 [Gene]
  • LOC126859952:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:17445039-17446238 [Gene]
  • LOC126859954:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:18548259-18549458 [Gene]
  • LOC126859956:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:20256832-20258031 [Gene]
  • POLR1F:RNA polymerase I subunit F [Gene - OMIM - HGNC]
  • LOC123924911:Sharpr-MPRA regulatory region 11479 [Gene]
  • LOC123924910:Sharpr-MPRA regulatory region 12164 [Gene]
  • LOC113743975:Sharpr-MPRA regulatory region 1382 [Gene]
  • LOC123924915:Sharpr-MPRA regulatory region 1729 [Gene]
  • LOC123924914:Sharpr-MPRA regulatory region 6645 [Gene]
  • LOC123924913:Sharpr-MPRA regulatory region 7324 [Gene]
  • LOC123924912:Sharpr-MPRA regulatory regions 10536 and 6796 [Gene]
  • LOC110120728:VISTA enhancer hs644 [Gene]
  • ANKMY2:ankyrin repeat and MYND domain containing 2 [Gene - HGNC]
  • AGR2:anterior gradient 2, protein disulphide isomerase family member [Gene - OMIM - HGNC]
  • AGR3:anterior gradient 3, protein disulphide isomerase family member [Gene - OMIM - HGNC]
  • AHR:aryl hydrocarbon receptor [Gene - OMIM - HGNC]
  • BZW2:basic leucine zipper and W2 domains 2 [Gene - OMIM - HGNC]
  • LOC110121290:eExon 18 TWIST1 limb enhancer [Gene]
  • LOC110121291:eExon 19 TWIST1 limb enhancer [Gene]
  • GIRGL:glutamine insufficiency regulator of glutaminase lncRNA [Gene - HGNC]
  • HDAC9:histone deacetylase 9 [Gene - OMIM - HGNC]
  • ITGB8:integrin subunit beta 8 [Gene - OMIM - HGNC]
  • LRRC72:leucine rich repeat containing 72 [Gene - HGNC]
  • LINC02888:long intergenic non-protein coding RNA 2888 [Gene - HGNC]
  • LINC02889:long intergenic non-protein coding RNA 2889 [Gene - HGNC]
  • LOC128772304:melanoma risk locus-associated MPRA allelic enhancer 7:17134708 [Gene]
  • MIR1302-6:microRNA 1302-6 [Gene - HGNC]
  • MIR3146:microRNA 3146 [Gene - HGNC]
  • PRPS1L1:phosphoribosyl pyrophosphate synthetase 1 like 1 [Gene - OMIM - HGNC]
  • SOSTDC1:sclerostin domain containing 1 [Gene - OMIM - HGNC]
  • SNX13:sorting nexin 13 [Gene - OMIM - HGNC]
  • TSPAN13:tetraspanin 13 [Gene - OMIM - HGNC]
  • TMEM196:transmembrane protein 196 [Gene - HGNC]
  • TWIST1:twist family bHLH transcription factor 1 [Gene - OMIM - HGNC]
  • LOC101927668:uncharacterized LOC101927668 [Gene]
  • LOC101927769:uncharacterized LOC101927769 [Gene]
  • LOC105375181:uncharacterized LOC105375181 [Gene]
Variant type:
copy number loss
Cytogenetic location:
7p21.2-21.1
Genomic location:
Preferred name:
GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1
HGVS:
  • NC_000007.14:g.(?_16121516)_(20607899_?)del
  • NC_000007.12:g.(?_16127666)_(20614047_?)del
  • NC_000007.13:g.(?_16161141)_(20647522_?)del
Links:
dbVar: nssv582657; dbVar: nsv534668
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
SCV000177450ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000177450.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024