GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3 AND See cases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 26, 2017
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:: RCV000663395.2

Allele description [Variation Report for GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3]

GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3

Genes:

RBAK:RB associated KRAB zinc finger [Gene - OMIM - HGNC]
RBAK-RBAKDN:RBAK-RBAKDN readthrough [Gene - HGNC]
RADIL:Rap associating with DIL domain [Gene - OMIM - HGNC]
WIPI2:WD repeat domain, phosphoinositide interacting 2 [Gene - OMIM - HGNC]
AP5Z1:adaptor related protein complex 5 subunit zeta 1 [Gene - OMIM - HGNC]
FOXK1:forkhead box K1 [Gene - OMIM - HGNC]
MMD2:monocyte to macrophage differentiation associated 2 [Gene - OMIM - HGNC]
PAPOLB:poly(A) polymerase beta [Gene - OMIM - HGNC]
SLC29A4:solute carrier family 29 member 4 [Gene - OMIM - HGNC]
TNRC18:trinucleotide repeat containing 18 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

7p22.1

Genomic location:

Chr7: 4644965 - 5436368 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3

HGVS:

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000786681	Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington	criteria provided, single submitter (Clinical Cytogenomics Laboratory Policy on CNV Interpretation)	Likely pathogenic (Dec 26, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Clinical Cytogenomics Laboratory Policy on CNV Interpretation.docx Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000786681

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

criteria provided, single submitter

(Clinical Cytogenomics Laboratory Policy on CNV Interpretation)

Likely pathogenic
(Dec 26, 2017)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Clinical Cytogenomics Laboratory Policy on CNV Interpretation.docx

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

7p22.1 microduplication syndrome: Refinement of the critical region.

Ronzoni L, Grassi FS, Pezzani L, Tucci A, Baccarin M, Esposito S, Milani D.

Eur J Med Genet. 2017 Feb;60(2):114-117. doi: 10.1016/j.ejmg.2016.11.005. Epub 2016 Nov 16.

PubMed [citation]

PMID:: 27866048

Details of each submission

From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV000786681.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Dec 11, 2022

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