GRCh37/hg19 7q35-36.1(chr7:147897705-149874566)x3 AND not provided

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV001249216.1

Allele description [Variation Report for GRCh37/hg19 7q35-36.1(chr7:147897705-149874566)x3]

GRCh37/hg19 7q35-36.1(chr7:147897705-149874566)x3

Genes:

ATP6V0E2:ATPase H+ transporting V0 subunit e2 [Gene - OMIM - HGNC]
KRBA1:KRAB-A domain containing 1 [Gene - HGNC]
RNY1:RNA, Ro60-associated Y1 [Gene - OMIM - HGNC]
RNY3:RNA, Ro60-associated Y3 [Gene - OMIM - HGNC]
RNY4:RNA, Ro60-associated Y4 [Gene - OMIM - HGNC]
RNY5:RNA, Ro60-associated Y5 [Gene - OMIM - HGNC]
C7orf33:chromosome 7 open reading frame 33 [Gene - HGNC]
CNTNAP2:contactin associated protein 2 [Gene - OMIM - HGNC]
CUL1:cullin 1 [Gene - OMIM - HGNC]
EZH2:enhancer of zeste 2 polycomb repressive complex 2 subunit [Gene - OMIM - HGNC]
PDIA4:protein disulfide isomerase family A member 4 [Gene - HGNC]
LOC100134040:uncharacterized LOC100134040 [Gene - OMIM]
ZNF212:zinc finger protein 212 [Gene - OMIM - HGNC]
ZNF282:zinc finger protein 282 [Gene - OMIM - HGNC]
ZNF398:zinc finger protein 398 [Gene - OMIM - HGNC]
ZNF425:zinc finger protein 425 [Gene - OMIM - HGNC]
ZNF467:zinc finger protein 467 [Gene - OMIM - HGNC]
ZNF746:zinc finger protein 746 [Gene - OMIM - HGNC]
ZNF777:zinc finger protein 777 [Gene - OMIM - HGNC]
ZNF783:zinc finger protein 783 [Gene - HGNC]
ZNF786:zinc finger protein 786 [Gene - HGNC]
ZNF862:zinc finger protein 862 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

7q35-36.1

Genomic location:

Chr7: 147897705 - 149874566 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 7q35-36.1(chr7:147897705-149874566)x3

HGVS:

NC_000007.13:g.(?_147897705)_(149874566_?)del

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001423150	GenomeConnect, ClinGen	no classification provided	not provided	de novo	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001423150

GenomeConnect, ClinGen

no classification provided

not provided

de novo

phenotyping only

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	unknown	not provided	not provided	not provided	not provided	not provided	phenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV001423150.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	phenotyping only	not provided

Description

Variant interpretted as Uncertain significance and reported on 08-30-2017 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Apr 23, 2022

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