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GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 25, 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:
RCV000133737.5

Allele description [Variation Report for GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1]

GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1

Genes:
  • LOC129998006:ATAC-STARR-seq lymphoblastoid active region 25669 [Gene]
  • LOC129998004:ATAC-STARR-seq lymphoblastoid silent region 17981 [Gene]
  • LOC129998005:ATAC-STARR-seq lymphoblastoid silent region 17982 [Gene]
  • LOC126859949:BRD4-independent group 4 enhancer GRCh37_chr7:16116228-16117427 [Gene]
  • CRPPA:CDP-L-ribitol pyrophosphorylase A [Gene - OMIM - HGNC]
  • CRPPA-AS1:CRPPA antisense RNA 1 [Gene - HGNC]
  • LOC129389757:MPRA-validated peak6410 silencer [Gene]
  • LOC129389758:MPRA-validated peak6411 silencer [Gene]
  • LOC123924911:Sharpr-MPRA regulatory region 11479 [Gene]
  • LOC123924910:Sharpr-MPRA regulatory region 12164 [Gene]
  • LOC113687203:Sharpr-MPRA regulatory region 14752 [Gene]
  • LOC123924908:Sharpr-MPRA regulatory region 14985 [Gene]
  • LOC123924909:Sharpr-MPRA regulatory region 6485 [Gene]
  • AGMO:alkylglycerol monooxygenase [Gene - OMIM - HGNC]
  • 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]
  • BZW2:basic leucine zipper and W2 domains 2 [Gene - OMIM - HGNC]
  • DGKB:diacylglycerol kinase beta [Gene - OMIM - HGNC]
  • LRRC72:leucine rich repeat containing 72 [Gene - HGNC]
  • LINC02587:long intergenic non-protein coding RNA 2587 [Gene - HGNC]
  • MEOX2:mesenchyme homeobox 2 [Gene - OMIM - HGNC]
  • SOSTDC1:sclerostin domain containing 1 [Gene - OMIM - HGNC]
  • TSPAN13:tetraspanin 13 [Gene - OMIM - HGNC]
  • LOC105375166:uncharacterized LOC105375166 [Gene]
Variant type:
copy number loss
Cytogenetic location:
7p21.2-21.1
Genomic location:
Preferred name:
GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1
HGVS:
  • NC_000007.14:g.(?_14904894)_(16925094_?)del
  • NC_000007.12:g.(?_14911044)_(16931243_?)del
  • NC_000007.13:g.(?_14944519)_(16964718_?)del
Links:
dbVar: nssv3396135; dbVar: nssv576495; dbVar: nsv491798
Observations:
2

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
SCV000173144ISCA site 4

See additional submitters

no assertion criteria provided
Pathogenic
(Jun 25, 2013) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes2not 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 4, SCV000173144.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided
2unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024