NC_000019.10:g.11089364_11089366del AND Hypercholesterolemia, familial, 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 25, 2016
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:: RCV000238310.1

Allele description [Variation Report for NC_000019.10:g.11089364_11089366del]

NC_000019.10:g.11089364_11089366del

Genes:

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

Variant type:

Deletion

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NC_000019.10:g.11089364_11089366del

Other names:

FH Pedi-2

HGVS:

NC_000019.10:g.11089364_11089366del
NG_009060.1:g.4984_4986del
LRG_274:g.4984_4986del
NC_000019.9:g.11200040_11200042del
NC_000019.9:g.11200040_11200042delCTT
NR_163945.1:n.295_297del
c.-185_-183delCTT

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000103; dbSNP: rs879254363

NCBI 1000 Genomes Browser:

rs879254363

Molecular consequence:

NR_163945.1:n.295_297del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hypercholesterolemia, familial, 1
Synonyms:: LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890

Recent activity

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acetylcholine receptor subunit alpha-like [Salmo trutta]
acetylcholine receptor subunit alpha-like [Salmo trutta]
gi|1696215729|ref|XP_029567032.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000294376	LDLR-LOVD, British Heart Foundation	criteria provided, single submitter (ACGS Guidelines, 2013)	Likely pathogenic (Mar 25, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000294376

LDLR-LOVD, British Heart Foundation

criteria provided, single submitter

(ACGS Guidelines, 2013)

Likely pathogenic
(Mar 25, 2016)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	literature only

Citations

PubMed

A 3-basepair deletion in repeat 1 of the LDL receptor promoter reduces transcriptional activity in a South African Pedi.

Peeters AV, Kotze MJ, Scholtz CL, De Waal LF, Rubinsztein DC, Coetzee GA, Zuliani G, Streiff R, Liu J, van der Westhuyzen DR.

J Lipid Res. 1998 May;39(5):1021-4.

PubMed [citation]

PMID:: 9610768

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294376.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Oct 8, 2024

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