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GRCh38/hg38 19p13.2(chr19:7723086-7883268)x3 AND See cases

Germline classification:
Likely 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:
RCV000139375.4

Allele description

GRCh38/hg38 19p13.2(chr19:7723086-7883268)x3

Genes:
  • LOC130063393:ATAC-STARR-seq lymphoblastoid active region 13900 [Gene]
  • LOC130063394:ATAC-STARR-seq lymphoblastoid active region 13901 [Gene]
  • LOC130063395:ATAC-STARR-seq lymphoblastoid active region 13902 [Gene]
  • LOC130063396:ATAC-STARR-seq lymphoblastoid silent region 9991 [Gene]
  • CLEC4G:C-type lectin domain family 4 member G [Gene - OMIM - HGNC]
  • CLEC4M:C-type lectin domain family 4 member M [Gene - OMIM - HGNC]
  • CD209:CD209 molecule [Gene - OMIM - HGNC]
  • LOC117307477:CD209 promoter region [Gene]
  • LOC117282006:CLEC4G promoter region [Gene]
  • LOC117307478:CLEC4M promoter region [Gene]
  • LOC125371468:Sharpr-MPRA regulatory region 2174 [Gene]
  • LOC112577457:Sharpr-MPRA regulatory region 8899 [Gene]
  • EVI5L:ecotropic viral integration site 5 like [Gene - HGNC]
  • PRR36:proline rich 36 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
GRCh38/hg38 19p13.2(chr19:7723086-7883268)x3
HGVS:
  • NC_000019.10:g.(?_7723086)_(7883268_?)dup
  • NC_000019.8:g.(?_7693972)_(7854153_?)dup
  • NC_000019.9:g.(?_7787972)_(7948153_?)dup
Links:
dbVar: nssv1604320; dbVar: nsv916817
Observations:
1

Condition(s)

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

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000179915ISCA site 4

See additional submitters

no assertion criteria provided
Likely benign
(Sep 21, 2012) 		not providedclinical 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 4, SCV000179915.3

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

Last Updated: Oct 14, 2023