NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del) AND Hypercholesterolemia, familial, 1

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Mar 25, 2016
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000237267.5

Allele description [Variation Report for NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del)]

NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del)

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.168TGA[1] (p.Asp57del)

HGVS:

NC_000019.10:g.11100323TGA[1]
NC_000019.9:g.11210999_11211001del
NG_009060.1:g.15943TGA[1]
NM_000527.4:c.171_173del
NM_000527.5:c.168TGA[1]MANE SELECT
NM_001195798.2:c.168TGA[1]
NM_001195799.2:c.168TGA[1]
NM_001195800.2:c.168TGA[1]
NM_001195803.2:c.168TGA[1]
NP_000518.1:p.Asp57del
NP_001182727.1:p.Asp57del
NP_001182728.1:p.Asp57del
NP_001182729.1:p.Asp57del
NP_001182732.1:p.Asp57del
LRG_274t1:c.171_173del
LRG_274:g.15943TGA[1]
NC_000019.9:g.11210999TGA[1]
NC_000019.9:g.11210999_11211001del
NC_000019.9:g.11211002_11211004delTGA
NM_000527.4:c.171_173delTGA
NP_000518.1:p.D57del
c.171_173delTGA

Protein change:

D57del

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000921; dbSNP: rs879254421

NCBI 1000 Genomes Browser:

rs879254421

Molecular consequence:

NM_000527.5:c.168TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001195798.2:c.168TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001195799.2:c.168TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001195800.2:c.168TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001195803.2:c.168TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000294492	LDLR-LOVD, British Heart Foundation	criteria provided, single submitter (ACGS Guidelines, 2013)	Likely pathogenic (Mar 25, 2016)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 11668627, 16389549 Citation Link,
SCV000484811	Robarts Research Institute, Western University	criteria provided, single submitter (Wang et al. (Arterioscler Thromb Vasc Biol. 2016))	Likely pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000294492

LDLR-LOVD, British Heart Foundation

criteria provided, single submitter

(ACGS Guidelines, 2013)

Likely pathogenic
(Mar 25, 2016)

germline

literature only

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

Citation Link,

SCV000484811

Robarts Research Institute, Western University

criteria provided, single submitter

(Wang et al. (Arterioscler Thromb Vasc Biol. 2016))

Likely pathogenic

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	2	not provided	clinical testing, literature only

Citations

PubMed

Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.

Wang J, Huff E, Janecka L, Hegele RA.

Hum Mutat. 2001 Oct;18(4):359.

PubMed [citation]

PMID:: 11668627

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.

Humphries SE, Cranston T, Allen M, Middleton-Price H, Fernandez MC, Senior V, Hawe E, Iversen A, Wray R, Crook MA, Wierzbicki AS.

J Mol Med (Berl). 2006 Mar;84(3):203-14. Epub 2005 Dec 31.

PubMed [citation]

PMID:: 16389549

See all PubMed Citations (3)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294492.2

#	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 Robarts Research Institute, Western University, SCV000484811.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	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

Last Updated: Sep 29, 2024

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