GRCh38/hg38 2q13(chr2:110076063-110209066)x3 AND See cases

Germline classification:: 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:: RCV000141047.3

Allele description [Variation Report for GRCh38/hg38 2q13(chr2:110076063-110209066)x3]

GRCh38/hg38 2q13(chr2:110076063-110209066)x3

Genes:

LOC126806305:BRD4-independent group 4 enhancer GRCh37_chr2:110863055-110864254 [Gene]
LOC126806306:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:110906815-110908014 [Gene]
MALL:mal, T cell differentiation protein like [Gene - OMIM - HGNC]
MIR4436B1:microRNA 4436b-1 [Gene - HGNC]
NPHP1:nephrocystin 1 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

2q13

Genomic location:

Preferred name:

GRCh38/hg38 2q13(chr2:110076063-110209066)x3

HGVS:

NC_000002.12:g.(?_110076063)_(110209066_?)dup
NC_000002.11:g.(?_110833640)_(110966643_?)dup

Links:

dbVar: nssv1608604; dbVar: nssv1609187; dbVar: nsv932429

Observations:

Condition(s)

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

Recent activity

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microtubule-associated protein tau [Bos taurus]
microtubule-associated protein tau [Bos taurus]
gi|27806547|ref|NP_776531.1|

Protein
Nocardia sienata gene for 16S rRNA, partial sequence
Nocardia sienata gene for 16S rRNA, partial sequence
gi|50344690|dbj|AB121770.1|

Nucleotide
type VI secretion protein, VC_A0110 family [Methylobacterium nodulans ORS 2060]
type VI secretion protein, VC_A0110 family [Methylobacterium nodulans ORS 2060]
gi|219947587|gnl|jgi|Mnod_3038|gb|A 79.1|

Protein
protein tyrosine kinase [Mus musculus domesticus]
protein tyrosine kinase [Mus musculus domesticus]
gi|529239|gb|AAA21565.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000181910	GeneDx	no assertion criteria provided	Benign (Apr 30, 2011)	not provided	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000181910

GeneDx

no assertion criteria provided

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	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000181910.3

#	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

#	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

Last Updated: Mar 26, 2023

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