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GRCh38/hg38 3p21.31(chr3:45691931-46277910)x3 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 5, 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:
RCV000134890.6

Allele description [Variation Report for GRCh38/hg38 3p21.31(chr3:45691931-46277910)x3]

GRCh38/hg38 3p21.31(chr3:45691931-46277910)x3

Genes:
  • LOC129936633:ATAC-STARR-seq lymphoblastoid active region 19785 [Gene]
  • LOC129936634:ATAC-STARR-seq lymphoblastoid active region 19787 [Gene]
  • LOC129936636:ATAC-STARR-seq lymphoblastoid active region 19790 [Gene]
  • LOC129936637:ATAC-STARR-seq lymphoblastoid active region 19791 [Gene]
  • LOC129936638:ATAC-STARR-seq lymphoblastoid active region 19792 [Gene]
  • LOC129936639:ATAC-STARR-seq lymphoblastoid active region 19794 [Gene]
  • LOC129936640:ATAC-STARR-seq lymphoblastoid active region 19795 [Gene]
  • LOC129936635:ATAC-STARR-seq lymphoblastoid silent region 14287 [Gene]
  • LOC126806672:BRD4-independent group 4 enhancer GRCh37_chr3:45979037-45980236 [Gene]
  • CCR1:C-C motif chemokine receptor 1 [Gene - OMIM - HGNC]
  • CCR3:C-C motif chemokine receptor 3 [Gene - OMIM - HGNC]
  • CCR9:C-C motif chemokine receptor 9 [Gene - OMIM - HGNC]
  • CXCR6:C-X-C motif chemokine receptor 6 [Gene - OMIM - HGNC]
  • LOC119086083:CCR9 promoter region [Gene]
  • FYCO1:FYVE and coiled-coil domain autophagy adaptor 1 [Gene - OMIM - HGNC]
  • LOC126806671:MED14-independent group 3 enhancer GRCh37_chr3:45956761-45957960 [Gene]
  • LOC132088966:Neanderthal introgressed variant-containing enhancer experimental_70191 [Gene]
  • LOC132088967:Neanderthal introgressed variant-containing enhancer experimental_70326 [Gene]
  • LOC126806670:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:45859284-45860483 [Gene]
  • SACM1L:SAC1 like phosphatidylinositide phosphatase [Gene - OMIM - HGNC]
  • LOC121009665:Sharpr-MPRA regulatory region 1914 [Gene]
  • LOC121009664:Sharpr-MPRA regulatory region 2695 [Gene]
  • XCR1:X-C motif chemokine receptor 1 [Gene - OMIM - HGNC]
  • LZTFL1:leucine zipper transcription factor like 1 [Gene - OMIM - HGNC]
  • SLC6A20:solute carrier family 6 member 20 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
GRCh38/hg38 3p21.31(chr3:45691931-46277910)x3
HGVS:
  • NC_000003.12:g.(?_45691931)_(46277910_?)dup
  • NC_000003.10:g.(?_45708427)_(46294405_?)dup
  • NC_000003.11:g.(?_45733423)_(46319401_?)dup
Links:
dbVar: nssv584383; dbVar: nsv498008
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
SCV000174526ISCA site 1

See additional submitters

no assertion criteria provided
Likely benign
(Aug 5, 2011) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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, SCV000174526.4

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

Last Updated: May 7, 2024