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GRCh37/hg19 Xp11.22(chrX:53155402-53787878) AND not specified

Germline classification:
Uncertain significance (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003986238.1

Allele description [Variation Report for GRCh37/hg19 Xp11.22(chrX:53155402-53787878)]

GRCh37/hg19 Xp11.22(chrX:53155402-53787878)

Genes:
  • HUWE1:HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • IQSEC2:IQ motif and Sec7 domain ArfGEF 2 [Gene - OMIM - HGNC]
  • RIBC1:RIB43A domain with coiled-coils 1 [Gene - HGNC]
  • HSD17B10:hydroxysteroid 17-beta dehydrogenase 10 [Gene - OMIM - HGNC]
  • KDM5C:lysine demethylase 5C [Gene - OMIM - HGNC]
  • MIR98:microRNA 98 [Gene - OMIM - HGNC]
  • MIRLET7F2:microRNA let-7f-2 [Gene - OMIM - HGNC]
  • SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xp11.22
Genomic location:
ChrX: 53155402 - 53787878 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Xp11.22(chrX:53155402-53787878)
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004802367ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
criteria provided, single submitter

(Constitutional Copy Number Variant Assertion Criteria)		Uncertain significancegermlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV004802367.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2024