GRCh38/hg38 7p22.3(chr7:890905-948487)x3 AND See cases

Germline classification:: conflicting data from submitters (1 submission)
Last evaluated:: Apr 30, 2011
Review status:: (0/4) 0 stars out of maximum of 4 stars
conflicting data from submitters (no assertion criteria 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:: RCV000140943.3

Allele description [Variation Report for GRCh38/hg38 7p22.3(chr7:890905-948487)x3]

GRCh38/hg38 7p22.3(chr7:890905-948487)x3

Genes:

LOC129997743:ATAC-STARR-seq lymphoblastoid active region 25477 [Gene]
LOC129997745:ATAC-STARR-seq lymphoblastoid active region 25478 [Gene]
LOC129997746:ATAC-STARR-seq lymphoblastoid active region 25479 [Gene]
LOC129997747:ATAC-STARR-seq lymphoblastoid active region 25480 [Gene]
LOC129997749:ATAC-STARR-seq lymphoblastoid active region 25481 [Gene]
LOC129997742:ATAC-STARR-seq lymphoblastoid silent region 17825 [Gene]
LOC129997744:ATAC-STARR-seq lymphoblastoid silent region 17826 [Gene]
LOC129997748:ATAC-STARR-seq lymphoblastoid silent region 17827 [Gene]
LOC129997750:ATAC-STARR-seq lymphoblastoid silent region 17828 [Gene]
ADAP1:ArfGAP with dual PH domains 1 [Gene - OMIM - HGNC]
LOC121740675:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:984861-986060 [Gene]
GET4:guided entry of tail-anchored proteins factor 4 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

7p22.3

Genomic location:

Preferred name:

GRCh38/hg38 7p22.3(chr7:890905-948487)x3

HGVS:

NC_000007.14:g.(?_890905)_(948487_?)dup
NC_000007.13:g.(?_930542)_(988123_?)dup

Links:

dbVar: nssv1608458; dbVar: nssv1609412; dbVar: nssv1609417; dbVar: nssv1609432; dbVar: nssv1610079; dbVar: nssv1610169; dbVar: nssv1610171; dbVar: nssv1610176; dbVar: nssv1610179; dbVar: nssv1610181; dbVar: nssv3394909; dbVar: nssv3394910; dbVar: nsv932319

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
SCV000181801	GeneDx	no assertion criteria provided	conflicting data from submitters (Apr 30, 2011)	not provided	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000181801

GeneDx

no assertion criteria provided

conflicting data from submitters
(Apr 30, 2011)

not provided

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	yes	12	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000181801.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided
2	not provided	1	not provided	not provided	clinical testing	not provided
3	not provided	1	not provided	not provided	clinical testing	not provided
4	not provided	1	not provided	not provided	clinical testing	not provided
5	not provided	1	not provided	not provided	clinical testing	not provided
6	not provided	1	not provided	not provided	clinical testing	not provided
7	not provided	1	not provided	not provided	clinical testing	not provided
8	not provided	1	not provided	not provided	clinical testing	not provided
9	not provided	1	not provided	not provided	clinical testing	not provided
10	not provided	1	not provided	not provided	clinical testing	not provided
11	not provided	1	not provided	not provided	clinical testing	not provided
12	not provided	1	not provided	not provided	clinical testing	not provided

Description

Uncertain significance(5), Likely benign (2), Benign (5)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
2	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
3	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
4	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
5	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
6	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
7	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
8	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
9	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
10	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
11	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
12	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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