NM_000527.5(LDLR):c.1954_1955del (p.Met652fs) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic (3 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:: RCV000211682.7

Allele description [Variation Report for NM_000527.5(LDLR):c.1954_1955del (p.Met652fs)]

NM_000527.5(LDLR):c.1954_1955del (p.Met652fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_000527.5(LDLR):c.1954_1955del (p.Met652fs)

HGVS:

NC_000019.10:g.11120198AT[1]
NG_009060.1:g.35818AT[1]
NM_000527.5:c.1954_1955delMANE SELECT
NM_001195798.2:c.1954_1955del
NM_001195799.2:c.1831_1832del
NM_001195800.2:c.1450_1451del
NM_001195803.2:c.1573_1574del
NP_000518.1:p.Met652fs
NP_001182727.1:p.Met652fs
NP_001182728.1:p.Met611fs
NP_001182729.1:p.Met484fs
NP_001182732.1:p.Met525fs
LRG_274:g.35818AT[1]
NC_000019.9:g.11230874AT[1]
NC_000019.9:g.11230874_11230875del
NM_000527.4:c.1954_1955delAT
c.1954_1955del

Protein change:

M484fs

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000265; dbSNP: rs875989935

NCBI 1000 Genomes Browser:

rs875989935

Molecular consequence:

NM_000527.5:c.1954_1955del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.1954_1955del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.1831_1832del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.1450_1451del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195803.2:c.1573_1574del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000268650	Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	no assertion criteria provided	Pathogenic (Mar 19, 2009)	germline	clinical testing
SCV000295772	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] 20538126, 22883975 Citation Link,
SCV000606561	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

SCV000268650

Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital

no assertion criteria provided

Pathogenic
(Mar 19, 2009)

germline

clinical testing

SCV000295772

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,

SCV000606561

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	unknown	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	yes	3	not provided	not provided	2	not provided	clinical testing, literature only

Citations

PubMed

Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.

Chiou KR, Charng MJ.

Am J Cardiol. 2010 Jun 15;105(12):1752-8. doi: 10.1016/j.amjcard.2010.01.356. Epub 2010 May 4.

PubMed [citation]

PMID:: 20538126

Genetic analysis of familial hypercholesterolaemia in Western Australia.

Hooper AJ, Nguyen LT, Burnett JR, Bates TR, Bell DA, Redgrave TG, Watts GF, van Bockxmeer FM.

Atherosclerosis. 2012 Oct;224(2):430-4. doi: 10.1016/j.atherosclerosis.2012.07.030. Epub 2012 Jul 27.

PubMed [citation]

PMID:: 22883975

Details of each submission

From Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital, SCV000268650.1

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

From LDLR-LOVD, British Heart Foundation, SCV000295772.2

#	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

From Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum, SCV000606561.1

#	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: Feb 25, 2025

ClinVar

Relating variation to medicine