GRCh37/hg19 18q21.2(chr18:51802787-53000275)x3 AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 9, 2018
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:: RCV001007426.1

Allele description [Variation Report for GRCh37/hg19 18q21.2(chr18:51802787-53000275)x3]

GRCh37/hg19 18q21.2(chr18:51802787-53000275)x3

Genes:

POLI:DNA polymerase iota [Gene - OMIM - HGNC]
RAB27B:RAB27B, member RAS oncogene family [Gene - OMIM - HGNC]
STARD6:StAR related lipid transfer domain containing 6 [Gene - OMIM - HGNC]
C18orf54:chromosome 18 open reading frame 54 [Gene - OMIM - HGNC]
CCDC68:coiled-coil domain containing 68 [Gene - OMIM - HGNC]
DYNAP:dynactin associated protein [Gene - OMIM - HGNC]
TCF4:transcription factor 4 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

18q21.2

Genomic location:

Chr18: 51802787 - 53000275 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 18q21.2(chr18:51802787-53000275)x3

HGVS:

Observations:

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Homo sapiens cDNA clone IMAGE:4330861, partial cds
Homo sapiens cDNA clone IMAGE:4330861, partial cds
gi|49255810|gb|BC074503.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001167041	Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington	criteria provided, single submitter (Clinical Cytogenomics Laboratory Policy on CNV Interpretation)	Uncertain significance (Mar 9, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001167041

Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington

criteria provided, single submitter

(Clinical Cytogenomics Laboratory Policy on CNV Interpretation)

Uncertain significance
(Mar 9, 2018)

unknown

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Abnormal maternal serum screening MedGen UID:868945; Family history of trisomy 18 MedGen UID:928010	unknown	yes	1	1	not provided	not provided	not provided	clinical testing

Details of each submission

From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV001167041.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Abnormal maternal serum screening MedGen UID:868945; Family history of trisomy 18 MedGen UID:928010	1	not provided	not provided	clinical testing	not provided

Description

Patient also had 22q11.21(18,892,575_20,306,993)x3 Pathogenic

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	Amniotic fluid	not provided		1	not provided	1	not provided

Last Updated: Apr 23, 2022

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