U.S. flag

An official website of the United States government

GRCh38/hg38 8p23.1(chr8:7256137-7981415)x1 AND See cases

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 21, 2012
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:
RCV000142847.5

Allele description [Variation Report for GRCh38/hg38 8p23.1(chr8:7256137-7981415)x1]

GRCh38/hg38 8p23.1(chr8:7256137-7981415)x1

Genes:
  • LOC129999803:ATAC-STARR-seq lymphoblastoid active region 26961 [Gene]
  • LOC129999802:ATAC-STARR-seq lymphoblastoid silent region 18890 [Gene]
  • DEFB103A:defensin beta 103A [Gene - HGNC]
  • DEFB103B:defensin beta 103B [Gene - OMIM - HGNC]
  • DEFB104A:defensin beta 104A [Gene - HGNC]
  • DEFB104B:defensin beta 104B [Gene - HGNC]
  • DEFB105A:defensin beta 105A [Gene - HGNC]
  • DEFB105B:defensin beta 105B [Gene - HGNC]
  • DEFB106A:defensin beta 106A [Gene - HGNC]
  • DEFB106B:defensin beta 106B [Gene - HGNC]
  • DEFB107A:defensin beta 107A [Gene - HGNC]
  • DEFB107B:defensin beta 107B [Gene - HGNC]
  • DEFB109B:defensin beta 109B [Gene - HGNC]
  • DEFB4A:defensin beta 4A [Gene - OMIM - HGNC]
  • DEFB4B:defensin beta 4B [Gene - HGNC]
  • FAM66B:family with sequence similarity 66 member B [Gene - HGNC]
  • FAM66E:family with sequence similarity 66 member E [Gene - HGNC]
  • FAM90A10:family with sequence similarity 90 member A10 [Gene - OMIM - HGNC]
  • FAM90A13:family with sequence similarity 90 member A13 [Gene - OMIM - HGNC]
  • FAM90A14:family with sequence similarity 90 member A14 [Gene - OMIM - HGNC]
  • FAM90A15:family with sequence similarity 90 member A15 [Gene - OMIM - HGNC]
  • FAM90A16:family with sequence similarity 90 member A16 [Gene - HGNC]
  • FAM90A17:family with sequence similarity 90 member A17 [Gene - HGNC]
  • FAM90A18:family with sequence similarity 90 member A18 [Gene - OMIM - HGNC]
  • FAM90A19:family with sequence similarity 90 member A19 [Gene - OMIM - HGNC]
  • FAM90A20:family with sequence similarity 90 member A20 [Gene - OMIM - HGNC]
  • FAM90A22:family with sequence similarity 90 member A22 [Gene - HGNC]
  • FAM90A23:family with sequence similarity 90 member A23 [Gene - HGNC]
  • FAM90A3:family with sequence similarity 90 member A3 [Gene - OMIM - HGNC]
  • FAM90A5:family with sequence similarity 90 member A5 [Gene - OMIM - HGNC]
  • FAM90A7:family with sequence similarity 90 member A7 [Gene - OMIM - HGNC]
  • FAM90A8:family with sequence similarity 90 member A8 [Gene - OMIM - HGNC]
  • FAM90A9:family with sequence similarity 90 member A9 [Gene - OMIM - HGNC]
  • LINC00965:long intergenic non-protein coding RNA 965 [Gene - HGNC]
  • PRR23D1:proline rich 23 domain containing 1 [Gene - HGNC]
  • PRR23D2:proline rich 23 domain containing 2 [Gene - HGNC]
  • LOC128966594:putative protein FAM90A9P [Gene]
  • SPAG11A:sperm associated antigen 11A [Gene - HGNC]
  • SPAG11B:sperm associated antigen 11B [Gene - OMIM - HGNC]
  • USP17L1:ubiquitin specific peptidase 17 like family member 1 [Gene - HGNC]
  • USP17L3:ubiquitin specific peptidase 17 like family member 3 [Gene - HGNC]
  • USP17L4:ubiquitin specific peptidase 17 like family member 4 [Gene - HGNC]
  • USP17L8:ubiquitin specific peptidase 17 like family member 8 [Gene - HGNC]
  • ZNF705B:zinc finger protein 705B [Gene - HGNC]
  • ZNF705G:zinc finger protein 705G [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
8p23.1
Genomic location:
Preferred name:
GRCh38/hg38 8p23.1(chr8:7256137-7981415)x1
HGVS:
  • NC_000008.11:g.(?_7256137)_(7981415_?)del
  • NC_000008.10:g.(?_7113659)_(7838937_?)del
  • NC_000008.9:g.(?_7101069)_(7876347_?)del
Links:
dbVar: nssv1601495; dbVar: nssv1604284; dbVar: nsv915759
Observations:
2

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000178858ISCA site 4

See additional submitters

no assertion criteria provided
Benign
(Sep 21, 2012) 		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, SCV000178858.3

#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