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GRCh38/hg38 6p21.2(chr6:36822889-37159699)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 21, 2014
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:
RCV000143519.6

Allele description [Variation Report for GRCh38/hg38 6p21.2(chr6:36822889-37159699)x1]

GRCh38/hg38 6p21.2(chr6:36822889-37159699)x1

Genes:
  • LOC129996302:ATAC-STARR-seq lymphoblastoid active region 24445 [Gene]
  • LOC129996303:ATAC-STARR-seq lymphoblastoid active region 24446 [Gene]
  • LOC129996305:ATAC-STARR-seq lymphoblastoid active region 24447 [Gene]
  • LOC129996306:ATAC-STARR-seq lymphoblastoid active region 24448 [Gene]
  • LOC129996307:ATAC-STARR-seq lymphoblastoid active region 24449 [Gene]
  • LOC129996308:ATAC-STARR-seq lymphoblastoid active region 24450 [Gene]
  • LOC129996309:ATAC-STARR-seq lymphoblastoid active region 24451 [Gene]
  • LOC129996313:ATAC-STARR-seq lymphoblastoid active region 24452 [Gene]
  • LOC129996301:ATAC-STARR-seq lymphoblastoid silent region 17121 [Gene]
  • LOC129996304:ATAC-STARR-seq lymphoblastoid silent region 17122 [Gene]
  • LOC129996310:ATAC-STARR-seq lymphoblastoid silent region 17124 [Gene]
  • LOC129996311:ATAC-STARR-seq lymphoblastoid silent region 17125 [Gene]
  • LOC129996312:ATAC-STARR-seq lymphoblastoid silent region 17126 [Gene]
  • LOC129996314:ATAC-STARR-seq lymphoblastoid silent region 17129 [Gene]
  • LOC116183059:CRISPRi-validated cis-regulatory element chr6.2470 [Gene]
  • LOC116183060:CRISPRi-validated cis-regulatory element chr6.2479 [Gene]
  • FGD2:FYVE, RhoGEF and PH domain containing 2 [Gene - OMIM - HGNC]
  • LOC126859665:MED14-independent group 3 enhancer GRCh37_chr6:36992286-36993485 [Gene]
  • LOC132089383:Neanderthal introgressed variant-containing enhancer experimental_91463 [Gene]
  • LOC123620100:Sharpr-MPRA regulatory region 12138 [Gene]
  • LOC123620099:Sharpr-MPRA regulatory region 12831 [Gene]
  • LOC123620103:Sharpr-MPRA regulatory region 7768 [Gene]
  • LOC123620104:Sharpr-MPRA regulatory region 7886 [Gene]
  • LOC123620102:Sharpr-MPRA regulatory region 8119 [Gene]
  • LOC123620101:Sharpr-MPRA regulatory region 8589 [Gene]
  • C6orf89:chromosome 6 open reading frame 89 [Gene - OMIM - HGNC]
  • CPNE5:copine 5 [Gene - OMIM - HGNC]
  • MTCH1:mitochondrial carrier 1 [Gene - OMIM - HGNC]
  • PI16:peptidase inhibitor 16 [Gene - HGNC]
  • PPIL1:peptidylprolyl isomerase like 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
6p21.2
Genomic location:
Preferred name:
GRCh38/hg38 6p21.2(chr6:36822889-37159699)x1
HGVS:
  • NC_000006.12:g.(?_36822889)_(37159699_?)del
  • NC_000006.10:g.(?_36898643)_(37235453_?)del
  • NC_000006.11:g.(?_36790665)_(37127475_?)del
Links:
dbVar: nssv3397204; dbVar: nsv995600
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
SCV000183026ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Oct 21, 2014) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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, SCV000183026.4

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

Last Updated: May 7, 2024