GRCh37/hg19 11p11.2(chr11:46418839-46753136)x3 AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 24, 2020
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:: RCV001259094.1

Allele description [Variation Report for GRCh37/hg19 11p11.2(chr11:46418839-46753136)x3]

GRCh37/hg19 11p11.2(chr11:46418839-46753136)x3

Genes:

ARHGAP1:Rho GTPase activating protein 1 [Gene - OMIM - HGNC]
AMBRA1:autophagy and beclin 1 regulator 1 [Gene - OMIM - HGNC]
ATG13:autophagy related 13 [Gene - OMIM - HGNC]
F2:coagulation factor II, thrombin [Gene - OMIM - HGNC]
HARBI1:harbinger transposase derived 1 [Gene - OMIM - HGNC]
ZNF408:zinc finger protein 408 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

11p11.2

Genomic location:

Chr11: 46418839 - 46753136 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 11p11.2(chr11:46418839-46753136)x3

HGVS:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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PREDICTED: Oenanthe melanoleuca doublecortin like kinase 1 (DCLK1), transcript v...
PREDICTED: Oenanthe melanoleuca doublecortin like kinase 1 (DCLK1), transcript variant X3, mRNA
gi|2511653883|ref|XM_056497846.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001436063	Quest Diagnostics Nichols Institute San Juan Capistrano	no assertion criteria provided	Uncertain significance (Mar 24, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001436063

Quest Diagnostics Nichols Institute San Juan Capistrano

no assertion criteria provided

Uncertain significance
(Mar 24, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001436063.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine

GRCh37/hg19 11p11.2(chr11:46418839-46753136)x3 AND not provided

Allele description [Variation Report for GRCh37/hg19 11p11.2(chr11:46418839-46753136)x3]

GRCh37/hg19 11p11.2(chr11:46418839-46753136)x3

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001436063.1