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GRCh38/hg38 6p21.2(chr6:36858748-37062057)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:
RCV000139390.5

Allele description [Variation Report for GRCh38/hg38 6p21.2(chr6:36858748-37062057)x3]

GRCh38/hg38 6p21.2(chr6:36858748-37062057)x3

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]
  • LOC129996304:ATAC-STARR-seq lymphoblastoid silent region 17122 [Gene]
  • LOC116183059:CRISPRi-validated cis-regulatory element chr6.2470 [Gene]
  • FGD2:FYVE, RhoGEF and PH domain containing 2 [Gene - OMIM - HGNC]
  • LOC126859665:MED14-independent group 3 enhancer GRCh37_chr6:36992286-36993485 [Gene]
  • LOC123620100:Sharpr-MPRA regulatory region 12138 [Gene]
  • C6orf89:chromosome 6 open reading frame 89 [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 gain
Cytogenetic location:
6p21.2
Genomic location:
Preferred name:
GRCh38/hg38 6p21.2(chr6:36858748-37062057)x3
HGVS:
  • NC_000006.12:g.(?_36858748)_(37062057_?)dup
  • NC_000006.10:g.(?_36934502)_(37137811_?)dup
  • NC_000006.11:g.(?_36826524)_(37029833_?)dup
Links:
dbVar: nssv1604266; dbVar: nsv916833
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
SCV000179930ISCA site 4

See additional submitters

no assertion criteria provided
Likely 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 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, SCV000179930.3

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

Last Updated: May 7, 2024