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GRCh37/hg19 3p25.3(chr3:9754611-10295828) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 2022
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:
RCV002053329.3

Allele description [Variation Report for GRCh37/hg19 3p25.3(chr3:9754611-10295828)]

GRCh37/hg19 3p25.3(chr3:9754611-10295828)

Genes:
  • OGG1:8-oxoguanine DNA glycosylase [Gene - OMIM - HGNC]
  • ARPC4-TTLL3:ARPC4-TTLL3 readthrough [Gene - HGNC]
  • BRK1:BRICK1 subunit of SCAR/WAVE actin nucleating complex [Gene - OMIM - HGNC]
  • EMC3:ER membrane protein complex subunit 3 [Gene - HGNC]
  • FANCD2:FA complementation group D2 [Gene - OMIM - HGNC]
  • FANCD2OS:FANCD2 opposite strand [Gene - HGNC]
  • RPUSD3:RNA pseudouridine synthase D3 [Gene - OMIM - HGNC]
  • TATDN2:TatD DNase domain containing 2 [Gene - OMIM - HGNC]
  • ARPC4:actin related protein 2/3 complex subunit 4 [Gene - OMIM - HGNC]
  • BRPF1:bromodomain and PHD finger containing 1 [Gene - OMIM - HGNC]
  • CAMK1:calcium/calmodulin dependent protein kinase I [Gene - OMIM - HGNC]
  • CIDEC:cell death inducing DFFA like effector c [Gene - OMIM - HGNC]
  • CPNE9:copine family member 9 [Gene - HGNC]
  • CRELD1:cysteine rich with EGF like domains 1 [Gene - OMIM - HGNC]
  • IRAK2:interleukin 1 receptor associated kinase 2 [Gene - OMIM - HGNC]
  • IL17RC:interleukin 17 receptor C [Gene - OMIM - HGNC]
  • IL17RE:interleukin 17 receptor E [Gene - OMIM - HGNC]
  • JAGN1:jagunal homolog 1 [Gene - OMIM - HGNC]
  • PRRT3:proline rich transmembrane protein 3 [Gene - OMIM - HGNC]
  • TADA3:transcriptional adaptor 3 [Gene - OMIM - HGNC]
  • TTLL3:tubulin tyrosine ligase like 3 [Gene - OMIM - HGNC]
  • VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3p25.3
Genomic location:
Chr3: 9754611 - 10295828 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3p25.3(chr3:9754611-10295828)
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002320125ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)
Uncertain significance
(Mar 1, 2022)
germlineclinical testing

Citation Link

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, SCV002320125.1

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

Last Updated: Nov 5, 2022