NM_000527.5(LDLR):c.417C>G (p.Asp139Glu) AND Hypercholesterolemia, familial, 1

Germline classification:: Likely 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:: RCV000211617.7

Allele description [Variation Report for NM_000527.5(LDLR):c.417C>G (p.Asp139Glu)]

NM_000527.5(LDLR):c.417C>G (p.Asp139Glu)

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.417C>G (p.Asp139Glu)

HGVS:

NC_000019.10:g.11105323C>G
NG_009060.1:g.20943C>G
NM_000527.5:c.417C>GMANE SELECT
NM_001195798.2:c.417C>G
NM_001195799.2:c.294C>G
NM_001195800.2:c.314-2069C>G
NM_001195803.2:c.314-1242C>G
NP_000518.1:p.Asp139Glu
NP_000518.1:p.Asp139Glu
NP_001182727.1:p.Asp139Glu
NP_001182728.1:p.Asp98Glu
LRG_274t1:c.417C>G
LRG_274:g.20943C>G
LRG_274p1:p.Asp139Glu
NC_000019.9:g.11215999C>G
NM_000527.4:c.417C>G
c.417C>G

Protein change:

D139E

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001729; dbSNP: rs537484504

NCBI 1000 Genomes Browser:

rs537484504

Molecular consequence:

NM_001195800.2:c.314-2069C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001195803.2:c.314-1242C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000527.5:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001195798.2:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001195799.2:c.294C>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000268562	Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	no assertion criteria provided	Pathogenic (Jul 9, 2008)	germline	clinical testing
SCV000294697	LDLR-LOVD, British Heart Foundation	criteria provided, single submitter (ACGS Guidelines, 2013)	Likely 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

SCV000268562

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

no assertion criteria provided

Pathogenic
(Jul 9, 2008)

germline

clinical testing

SCV000294697

LDLR-LOVD, British Heart Foundation

criteria provided, single submitter

(ACGS Guidelines, 2013)

Likely 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

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, SCV000268562.1

#	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, SCV000294697.2

#	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: Aug 5, 2023

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