NM_000527.5(LDLR):c.1469G>A (p.Trp490Ter) 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:: RCV000211689.5

Allele description [Variation Report for NM_000527.5(LDLR):c.1469G>A (p.Trp490Ter)]

NM_000527.5(LDLR):c.1469G>A (p.Trp490Ter)

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.1469G>A (p.Trp490Ter)

HGVS:

NC_000019.10:g.11113645G>A
NG_009060.1:g.29265G>A
NM_000527.5:c.1469G>AMANE SELECT
NM_001195798.2:c.1469G>A
NM_001195799.2:c.1346G>A
NM_001195800.2:c.965G>A
NM_001195803.2:c.1088G>A
NP_000518.1:p.Trp490Ter
NP_000518.1:p.Trp490Ter
NP_001182727.1:p.Trp490Ter
NP_001182728.1:p.Trp449Ter
NP_001182729.1:p.Trp322Ter
NP_001182732.1:p.Trp363Ter
LRG_274t1:c.1469G>A
LRG_274:g.29265G>A
LRG_274p1:p.Trp490Ter
NC_000019.9:g.11224321G>A
NM_000527.4:c.1469G>A
c.1469G>A

Protein change:

W322*

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000203; dbSNP: rs875989922

NCBI 1000 Genomes Browser:

rs875989922

Molecular consequence:

NM_000527.5:c.1469G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001195798.2:c.1469G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001195799.2:c.1346G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001195800.2:c.965G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001195803.2:c.1088G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000268618	Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	no assertion criteria provided	Pathogenic (Aug 25, 2011)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000295454	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

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000268618

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

no assertion criteria provided

Pathogenic
(Aug 25, 2011)

germline

clinical testing

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

SCV000295454

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

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	1	not provided	clinical testing, literature only

Citations

PubMed

Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms: detection of a nonsense mutation-FH469-->Stop.

Leren TP, Solberg K, Rødningen OK, Røsby O, Tonstad S, Ose L, Berg K.

Hum Genet. 1993 Aug;92(1):6-10.

PubMed [citation]

PMID:: 8103503

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 Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital, SCV000268618.1

#	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

From LDLR-LOVD, British Heart Foundation, SCV000295454.2

#	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

Last Updated: Sep 29, 2024

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