NM_000527.5(LDLR):c.513del (p.Asp172fs) 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:: RCV000237451.2

Allele description [Variation Report for NM_000527.5(LDLR):c.513del (p.Asp172fs)]

NM_000527.5(LDLR):c.513del (p.Asp172fs)

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.513del (p.Asp172fs)

HGVS:

NC_000019.10:g.11105419del
NC_000019.9:g.11216092del
NG_009060.1:g.21039del
NM_000527.5:c.513delMANE SELECT
NM_001195798.2:c.513del
NM_001195799.2:c.390del
NM_001195800.2:c.314-1973del
NM_001195803.2:c.314-1146del
NP_000518.1:p.Asp172fs
NP_001182727.1:p.Asp172fs
NP_001182728.1:p.Asp131fs
LRG_274:g.21039del
NC_000019.9:g.11216092del
NC_000019.9:g.11216095del
NC_000019.9:g.11216095delC
NM_000527.4:c.513delC
c.513delC

Protein change:

D131fs

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000069; dbSNP: rs879254552

NCBI 1000 Genomes Browser:

rs879254552

Molecular consequence:

NM_000527.5:c.513del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.513del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.390del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.314-1973del - intron variant - [Sequence Ontology: SO:0001627]
NM_001195803.2:c.314-1146del - 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

Recent activity

Clear Turn Off Turn On

cysteine protease ATG4B isoform X3 [Rattus norvegicus]
cysteine protease ATG4B isoform X3 [Rattus norvegicus]
gi|1958802885|ref|XP_038939703.1|

Protein
Fyb1 FYN binding protein 1 [Rattus norvegicus]
Fyb1 FYN binding protein 1 [Rattus norvegicus]
Gene ID:499537

Gene

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
SCV000294754	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, 22881376 Citation Link,
SCV000606141	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

SCV000294754

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,

SCV000606141

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	2	not provided	not provided	2	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	research

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

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.

Usifo E, Leigh SE, Whittall RA, Lench N, Taylor A, Yeats C, Orengo CA, Martin AC, Celli J, Humphries SE.

Ann Hum Genet. 2012 Sep;76(5):387-401. doi: 10.1111/j.1469-1809.2012.00724.x.

PubMed [citation]

PMID:: 22881376

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294754.2

#	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, SCV000606141.1

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine