GRCh38/hg38 12p11.21(chr12:32646222-32689862)x3 AND See cases

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 30, 2011
Review status:: (0/4) 0 stars out of maximum of 4 stars
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:: RCV000141167.3

Allele description [Variation Report for GRCh38/hg38 12p11.21(chr12:32646222-32689862)x3]

GRCh38/hg38 12p11.21(chr12:32646222-32689862)x3

Genes:

LOC130007663:ATAC-STARR-seq lymphoblastoid silent region 4339 [Gene]
LOC126861496:MED14-independent group 3 enhancer GRCh37_chr12:32827128-32828327 [Gene]
DNM1L:dynamin 1 like [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

12p11.21

Genomic location:

Preferred name:

GRCh38/hg38 12p11.21(chr12:32646222-32689862)x3

HGVS:

NC_000012.12:g.(?_32646222)_(32689862_?)dup
NC_000012.11:g.(?_32799156)_(32842796_?)dup

Links:

dbVar: nssv1608758; dbVar: nsv932554

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
SCV000182044	GeneDx	no assertion criteria provided	Likely benign (Apr 30, 2011)	not provided	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000182044

GeneDx

no assertion criteria provided

Likely benign
(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	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000182044.3

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

#	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

Last Updated: Oct 14, 2023

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Relating variation to medicine