NM_000527.5(LDLR):c.495G>A (p.Trp165Ter) 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:: RCV000238049.2

Allele description [Variation Report for NM_000527.5(LDLR):c.495G>A (p.Trp165Ter)]

NM_000527.5(LDLR):c.495G>A (p.Trp165Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_000527.5(LDLR):c.495G>A (p.Trp165Ter)

HGVS:

NC_000019.10:g.11105401G>A
NG_009060.1:g.21021G>A
NM_000527.5:c.495G>AMANE SELECT
NM_001195798.2:c.495G>A
NM_001195799.2:c.372G>A
NM_001195800.2:c.314-1991G>A
NM_001195803.2:c.314-1164G>A
NP_000518.1:p.Trp165Ter
NP_000518.1:p.Trp165Ter
NP_001182727.1:p.Trp165Ter
NP_001182728.1:p.Trp124Ter
LRG_274t1:c.495G>A
LRG_274:g.21021G>A
LRG_274p1:p.Trp165Ter
NC_000019.9:g.11216077G>A
NM_000527.4:c.495G>A
c.495G>A

Protein change:

W124*

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000064; dbSNP: rs879254546

NCBI 1000 Genomes Browser:

rs879254546

Molecular consequence:

NM_001195800.2:c.314-1991G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001195803.2:c.314-1164G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000527.5:c.495G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001195798.2:c.495G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001195799.2:c.372G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000294741	LDLR-LOVD, British Heart Foundation	criteria provided, single submitter (ACGS Guidelines, 2013)	Pathogenic (Mar 25, 2016)	germline	research, literature only	PubMed (2) [See all records that cite these PMIDs] 17935672, 19837725 Citation Link,
SCV000606133	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

SCV000294741

LDLR-LOVD, British Heart Foundation

criteria provided, single submitter

(ACGS Guidelines, 2013)

Pathogenic
(Mar 25, 2016)

germline

research, literature only

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

Citation Link,

SCV000606133

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	no	1	not provided	not provided	1	not provided	literature only
not provided	germline	yes	2	not provided	not provided	2	not provided	research, literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family.

Xie L, Gong QH, Xie ZG, Liang ZM, Hu ZM, Xia K, Xia JH, Yang YF.

Chin Med J (Engl). 2007 Oct 5;120(19):1694-9.

PubMed [citation]

PMID:: 17935672

Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.

Whittall RA, Scartezini M, Li K, Hubbart C, Reiner Z, Abraha A, Neil HA, Dedoussis G, Humphries SE.

Ann Clin Biochem. 2010 Jan;47(Pt 1):44-55. doi: 10.1258/acb.2009.009076. Epub 2009 Oct 16.

PubMed [citation]

PMID:: 19837725

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294741.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (2)
2	not provided	1	not provided	not provided	literature only	PubMed (2)
3	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	no	1	not provided	not provided		1	not provided	not provided	not provided
3	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, SCV000606133.1

#	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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