NC_000019.10:g.11087732_11090710del AND Hypercholesterolemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 25, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000855543.1

Allele description [Variation Report for NC_000019.10:g.11087732_11090710del]

NC_000019.10:g.11087732_11090710del

Genes:

LDLR-AS1:LDLR antisense RNA 1 [Gene - HGNC]
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NC_000019.10:g.11087732_11090710del

HGVS:

NC_000019.10:g.11087732_11090710del
NG_009060.1:g.3352_6330del
LRG_274:g.3352_6330del
NC_000019.9:g.11198408_11201386del

Functional consequence:

complete gene deletion [Variation Ontology: 0169]

Observations:

Condition(s)

Name:: Hypercholesterolemia
Synonyms:: Primary hypercholesterolemia; Hypercholesterolaemia
Identifiers:: MeSH: D006937; MedGen: C0020443; Human Phenotype Ontology: HP:0003124

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000998548	UCSF Pediatric Lipid Clinic, University of California, San Francisco	criteria provided, single submitter (Submitter's publication)	Pathogenic (Sep 25, 2019)	inherited	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000998548

UCSF Pediatric Lipid Clinic, University of California, San Francisco

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Sep 25, 2019)

inherited

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
European	inherited	yes	5	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From UCSF Pediatric Lipid Clinic, University of California, San Francisco, SCV000998548.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	European	5	not provided	not provided	clinical testing	not provided

Description

The 3kb LDLR deletion allele segregates with elevated level of LDL-C in a family of over ten individuals. This novel deletion removes the promoter and exon 1 of this gene.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		5	not provided	not provided	not provided

Last Updated: Nov 5, 2022

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