NM_000527.5(LDLR):c.2063del (p.Asn688fs) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic (2 submissions)
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:: RCV000237993.2

Allele description [Variation Report for NM_000527.5(LDLR):c.2063del (p.Asn688fs)]

NM_000527.5(LDLR):c.2063del (p.Asn688fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_000527.5(LDLR):c.2063del (p.Asn688fs)

HGVS:

NC_000019.10:g.11120445del
NG_009060.1:g.36065del
NM_000527.5:c.2063delMANE SELECT
NM_001195798.2:c.2063del
NM_001195799.2:c.1940del
NM_001195800.2:c.1559del
NM_001195803.2:c.1606+212del
NP_000518.1:p.Asn688fs
NP_000518.1:p.Asn688fs
NP_001182727.1:p.Asn688fs
NP_001182728.1:p.Asn647fs
NP_001182729.1:p.Asn520fs
LRG_274t1:c.2063del
LRG_274:g.36065del
LRG_274p1:p.Asn688fs
NC_000019.9:g.11231121del
NC_000019.9:g.11231121delA
NM_000527.4:c.2063del
c.2063delA

Protein change:

N520fs

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001075; dbSNP: rs879255128

NCBI 1000 Genomes Browser:

rs879255128

Molecular consequence:

NM_000527.5:c.2063del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.2063del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.1940del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.1559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195803.2:c.1606+212del - 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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LOC100151308 [Danio rerio]
LOC100151308 [Danio rerio]
Gene ID:100151308

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000295854	LDLR-LOVD, British Heart Foundation	criteria provided, single submitter (ACGS Guidelines, 2013)	Pathogenic (Mar 25, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV000606592	Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	no assertion criteria provided	Pathogenic	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000295854

LDLR-LOVD, British Heart Foundation

criteria provided, single submitter

(ACGS Guidelines, 2013)

Pathogenic
(Mar 25, 2016)

germline

literature only

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

Citation Link,

SCV000606592

Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum

no assertion criteria provided

Pathogenic

germline

research

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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

Fouchier SW, Kastelein JJ, Defesche JC.

Hum Mutat. 2005 Dec;26(6):550-6.

PubMed [citation]

PMID:: 16250003

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295854.2

#	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

From Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum, SCV000606592.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	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: Aug 5, 2023

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