NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs) AND Hypercholesterolemia, familial, 1

Germline classification:: 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:: RCV000237888.1

Allele description [Variation Report for NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs)]

NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs)

Gene:

LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs)

HGVS:

NC_000019.10:g.11120490_11120496dup
NG_009060.1:g.36110_36116dup
NM_000527.5:c.2108_2114dupMANE SELECT
NM_001195798.2:c.2108_2114dup
NM_001195799.2:c.1985_1991dup
NM_001195800.2:c.1604_1610dup
NM_001195803.2:c.1606+257_1606+263dup
NP_000518.1:p.Arg706fs
NP_000518.1:p.Arg706fs
NP_001182727.1:p.Arg706fs
NP_001182728.1:p.Arg665fs
NP_001182729.1:p.Arg538fs
LRG_274t1:c.2108_2114dup
LRG_274:g.36110_36116dup
LRG_274p1:p.Arg706fs
NC_000019.9:g.11231163_11231164insGCTGCTG
NC_000019.9:g.11231166_11231172dup
NM_000527.4:c.2108_2114dup
NM_000527.4:c.2108_2114dupTGCTGGC
c.2108_2114dup

Protein change:

R538fs

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000675; dbSNP: rs879255141

NCBI 1000 Genomes Browser:

rs879255141

Molecular consequence:

NM_000527.5:c.2108_2114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.2108_2114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.1985_1991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.1604_1610dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195803.2:c.1606+257_1606+263dup - intron variant - [Sequence Ontology: SO:0001627]

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

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Il10rb interleukin 10 receptor subunit beta [Rattus norvegicus]
Il10rb interleukin 10 receptor subunit beta [Rattus norvegicus]
Gene ID:304091

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000295877	LDLR-LOVD, British Heart Foundation	criteria provided, single submitter (ACGS Guidelines, 2013)	Pathogenic (Mar 25, 2016)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 11005141, 11313767 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000295877

LDLR-LOVD, British Heart Foundation

criteria provided, single submitter

(ACGS Guidelines, 2013)

Pathogenic
(Mar 25, 2016)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	2	not provided	literature only

Citations

PubMed

Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia.

Khoo KL, van Acker P, Defesche JC, Tan H, van de Kerkhof L, Heijnen-van Eijk SJ, Kastelein JJ, Deslypere JP.

Clin Genet. 2000 Aug;58(2):98-105.

PubMed [citation]

PMID:: 11005141

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.

Heath KE, Humphries SE, Middleton-Price H, Boxer M.

Eur J Hum Genet. 2001 Apr;9(4):244-52.

PubMed [citation]

PMID:: 11313767

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295877.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	PubMed (2)
2	not provided	1	not provided	not provided	literature only	PubMed (2)

#	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
2	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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