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GRCh38/hg38 7p11.2(chr7:57193415-57864134)x3 AND See cases

Germline classification:
conflicting data from submitters (1 submission)
Last evaluated:
Feb 1, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
conflicting data from submitters (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:
RCV000141855.6

Allele description [Variation Report for GRCh38/hg38 7p11.2(chr7:57193415-57864134)x3]

GRCh38/hg38 7p11.2(chr7:57193415-57864134)x3

Genes:
MIR3147HG:MIR3147 host gene [Gene - HGNC]
LOC132089552:Neanderthal introgressed variant-containing enhancer experimental_99715 [Gene]
MIR3147:microRNA 3147 [Gene - HGNC]
LOC105375297:uncharacterized LOC105375297 [Gene]
ZNF716:zinc finger protein 716 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7p11.2
Genomic location:
Preferred name:
GRCh38/hg38 7p11.2(chr7:57193415-57864134)x3
HGVS:
  • NC_000007.14:g.(?_57193415)_(57864134_?)dup
  • NC_000007.13:g.(?_57261122)_(57923840_?)dup
Links:
dbVar: nssv13651680; dbVar: nssv3397068; dbVar: nsv995481
Observations:
2

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
SCV000182904ISCA site 1

See additional submitters

no assertion criteria provided
conflicting data from submitters
(Feb 1, 2016) 		paternal, 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
not providedpaternalyes1not 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, SCV000182904.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)

Description

Uncertain significance(1), Likely benign (1)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providedDiscovery1not providednot providednot provided
2unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024